Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 912 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status	Date of Sent Email
ABCB1	Plant size (dwarfism)	Unknown, Unknown	Cenchrus americanus (species)	Domesticated	Linkage Mapping	Parvathaneni RK; Jakkula V; Padi FK ; et al. (2013) Fine-mapping and identification of a candidate gene underlying the d2 dwarfing phenotype in pearl mi[...]	GP00000006	ABCB1 Q9ZR72	Morphology	unknown	Cenchrus americanus (species)	Cenchrus americanus (species)	ABCB1	Cenchrus americanus (species)	Published - Accepted by Curator
ABCB1	Plant size (dwarfism)	Coding, Insertion N	Sorghum bicolor sorghum - (species)	Domesticated	Candidate Gene	Multani DS; Briggs SP; Chamberlin MA ; et al. (2003) Loss of an MDR transporter in compact stalks of maize br2 and sorghum dw3 mutants.	GP00000007	ABCB1 Q9ZR72	Morphology	882bp direct duplication in exon 5 of the dw3 allele driving loss-of-function N	Sorghum bicolor sorghum - (species)	Sorghum bicolor sorghum - (species)	ABCB1	Sorghum bicolor sorghum - (species)	Published - Accepted by Curator
Abdominal-B	Coloration (male-specific)	Unknown, Unknown	Drosophila malerkotliana (species)	Intraspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001548	Abd-B P09087	Morphology	unknown	Drosophila malerkotliana (species)	Drosophila malerkotliana (species)	Abdominal-B	Drosophila malerkotliana (species)	Published - Accepted by Curator
Abdominal-B	Coloration (male-specific)	Unknown, Unknown	Drosophila merina (species)	Interspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001549	Abd-B P09087	Morphology	unknown	Drosophila ercepeae (species)	Drosophila merina (species)	Abdominal-B	Drosophila merina (species)	Published - Accepted by Curator
Abdominal-B	Coloration (abdomen; male)	Cis-regulatory, Unknown	Drosophila santomea (species) D	Interspecific	Linkage Mapping	Liu Y; Ramos-Womack M; Han C ; et al. (2019) Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.	GP00002021	Abd-B P09087	Morphology	change in the iab5 cis-regulatory element (15kb long)- exact causing mutation(s) unknown - decreased AbdB abdominal expression	Drosophila yakuba (species)	Drosophila santomea (species) D	Abdominal-B	Drosophila santomea (species)	Published - Accepted by Curator
Abdominal-B	Coloration (abdomen; setae)	Cis-regulatory, Unknown	Bombus melanopygus (species)	Intraspecific	Association Mapping	Tian L; Rahman SR; Ezray BD ; et al. (2019) A homeotic shift late in development drives mimetic color variation in a bumble bee.	GP00002048	Abd-B P09087	Morphology	4kb region - probably several mutations according to recombinants with intermediate phenotypes	Bombus melanopygus (species)	Bombus melanopygus (species)	Abdominal-B	Bombus melanopygus (species)	Published - Accepted by Curator
achaete-scute complex	Bristle number (abdomen; female-limited)	Cis-regulatory, Insertion	Drosophila melanogaster fruit fly - (species) D	Intraspecific	Linkage Mapping	Long AD; Lyman RF; Morgan AH ; et al. (2000) Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]	GP00000046	sc P10084	Morphology	transposon insertion in non-coding region	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species) D	achaete-scute complex	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
achaete-scute complex	Bristle number (abdomen)	Cis-regulatory, Indel	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Long AD; Lyman RF; Morgan AH ; et al. (2000) Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]	GP00000047	sc P10084	Morphology	indel MC21 in promoter region of scute	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	achaete-scute complex	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
achaete-scute complex	Bristle number (thorax)	Cis-regulatory, Indel	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Gruber JD; Genissel A; Macdonald SJ ; et al. (2007) How repeatable are associations between polymorphisms in achaete-scute and bristle number variation [...]	GP00000048	sc P10084	Morphology	indel MC22 in promoter region of scute	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	achaete-scute complex	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
achaete-scute complex	Bristle number (thorax)	Cis-regulatory, Unknown	Drosophila quadrilineata (species)	Interspecific	Candidate Gene	Marcellini S; Simpson P (2006) Two or four bristles: functional evolution of an enhancer of scute in Drosophilidae.	GP00000049	sc P10084	Morphology	Not identified	Drosophila melanogaster fruit fly - (species)	Drosophila quadrilineata (species)	achaete-scute complex	Drosophila quadrilineata (species)	Published - Accepted by Curator
achaete-scute complex	Bristle number (genitalia; leg sex comb)	3 Mutations: Cis-regulatory SNP	Drosophila santomea (species) D	Interspecific	Linkage Mapping	Nagy O; Nuez I; Savisaar R ; et al. (2018) Correlated Evolution of Two Copulatory Organs via a Single cis-Regulatory Nucleotide Change.	GP00001680	sc P10084	Morphology	3 mutations	Drosophila yakuba (species)	Drosophila santomea (species) D	achaete-scute complex	Drosophila santomea (species)	Published - Accepted by Curator
ACS11	Plant architecture (petiole-to-leaf-length ratio)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Association Mapping	Kooke R; Kruijer W; Bours R ; et al. (2016) Genome-Wide Association Mapping and Genomic Prediction Elucidate the Genetic Architecture of Morphol[...]	GP00001235	ACS11 Q9S9U6	Morphology	several candidate amino acid changes	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	ACS11	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
ADAMTS10	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000050	ADAMTS10 Q9H324	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	ADAMTS10	Homo sapiens human - (species)	Published - Accepted by Curator
AGAMOUS-LIKE 50	Leaf number (at flowering time)	Unknown, Unknown	Arabidopsis thaliana thale cress - (species)	Intraspecific	Association Mapping	Seymour DK; Chae E; Grimm DG ; et al. (2016) Genetic architecture of nonadditive inheritance in Arabidopsis thaliana hybrids.	GP00001450	AGAMOUS-like 50 Q9XIE7	Morphology	unknown	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AGAMOUS-LIKE 50	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AGAMOUS-Like6	Plant architecture Inflorescence architecture	Coding, SNP	Arabidopsis thaliana thale cress - (species) D	Intraspecific	Linkage Mapping	Huang X; Effgen S; Meyer RC ; et al. (2012) Epistatic natural allelic variation reveals a function of AGAMOUS-LIKE6 in axillary bud formation in[...]	GP00000053	AGL6 P29386	Morphology Morphology	Pro201Leu	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AGAMOUS-Like6	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002140	ACAN P16112	Morphology	2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Cis-regulatory, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002141	ACAN P16112	Morphology	−198C>T transition predicted to introduce a new ATG start codon 199 bp upstream of the normal start codon N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002142	ACAN P16112	Morphology	g.95257458_95257500del ; p.Phe2017-Asp2023del N	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metzger J; Gast AC; Schrimpf R ; et al. (2017) Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland p[...] 1 Additional References Eberth JE; Graves KT; MacLeod JN (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002143	ACAN P16112	Morphology	g.95282140C>G ; p.Ala505Pro	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002144	ACAN P16112	Morphology	g.95284530C>T ; p.Val424Met	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002145	ACAN P16112	Morphology	g.95291270del ; p.Lys82fs N	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat; dorso-ventral)	Gene Loss, Deletion N	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Candidate Gene	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00000055	Asip Q03288	Morphology	125kb deletion including 5' CDS of Agouti N	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)	Agouti	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat; dorso-ventral)	Coding, SNP N	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Candidate Gene	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00000056	Asip Q03288	Morphology	Premature stop codon at residue 65 N	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)	Agouti	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat; dorso-ventral)	Cis-regulatory, Unknown	Peromyscus polionotus leucocephalus (subspecies) D Peromyscus polionotus niveiventris (subspecies) D Peromyscus polionotus peninsularis (subspecies) D Peromyscus polionotus allophrys (subspecies) D Peromyscus polionotus trissyllepsis (subspecies) D Peromyscus polionotus ammobates (subspecies) D Peromyscus polionotus albifrons (subspecies) D Peromyscus polionotus subgriseus (subspecies) D	Intraspecific	Linkage Mapping	Manceau M; Domingues VS; Mallarino R ; et al. (2011) The developmental role of Agouti in color pattern evolution. 1 Additional References Wooldridge TB; Kautt AF; Lassance JM (2022) An enhancer of Agouti contributes to parallel evolution of cryptically colored beach mice.	GP00000057	Asip Q03288	Morphology	"A closer investigation of this region revealed three SNPs significantly associated with pigment variation, spanning 1,756 bp, in strong linkage disequilibrium (mean r2 = 0.85). A single SNP on chromosome 4 (chr4) at position chr4: 9,845,301 showed a markedly stronger association with pPC1 than the other two (Fig. 3B). This SNP is located between two untranslated exons (exons 1D and 1E), is 120 bp upstream of a cluster of Short Interspersed Nuclear Elements (SINE) in reverse orientation relative to the transcription of Agouti, and is 5,641 bp upstream of the first coding exon (exon 2). " "Next, we employ an association-mapping approach to identify an ∼2-kb previously uncharacterized noncoding region of Agouti associated with color variation. We then show that this 2-kb region can drive dermal expression in Mus embryos, demonstrating its regulatory activity in the skin during the establishment of pigmentation."	Peromyscus polionotus subgriseus (subspecies) Peromyscus polionotus polionotus (subspecies) Peromyscus polionotus albifrons (subspecies)	Peromyscus polionotus leucocephalus (subspecies) D Peromyscus polionotus niveiventris (subspecies) D Peromyscus polionotus peninsularis (subspecies) D Peromyscus polionotus allophrys (subspecies) D Peromyscus polionotus trissyllepsis (subspecies) D Peromyscus polionotus ammobates (subspecies) D Peromyscus polionotus albifrons (subspecies) D Peromyscus polionotus subgriseus (subspecies) D	Agouti	Peromyscus polionotus leucocephalus (subspecies) Peromyscus polionotus niveiventris (subspecies) Peromyscus polionotus peninsularis (subspecies) Peromyscus polionotus allophrys (subspecies) Peromyscus polionotus trissyllepsis (subspecies) Peromyscus polionotus ammobates (subspecies) Peromyscus polionotus albifrons (subspecies) Peromyscus polionotus subgriseus (subspecies)	Published - Accepted by Curator
Agouti	Coloration (coat; dorso-ventral)	Cis-regulatory, Unknown	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Drögemüller C; Giese A; Martins-Wess F ; et al. (2006) The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine[...]	GP00000058	Asip Q03288	Morphology	unknown	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	Agouti	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Agouti	Coloration (coat)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Girardot M; Guibert S; Laforet MP ; et al. (2006) The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregula[...]	GP00000059	Asip Q03288	Morphology	LINE element insertion in 5' region of gene; over expression of alternative splice forms	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Agouti	Bos taurus cattle - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Rieder S; Taourit S; Mariat D ; et al. (2001) Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000062	Asip Q03288	Morphology	11bp deletion in exon 2: g.2174_2184del11 c.191_201del N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Agouti	Equus caballus horse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000063	Asip Q03288	Morphology	Deletion of nt 123-124 N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Agouti	Felis catus domestic cat - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Panthera pardus leopard - (species) D	Intraspecific	Candidate Gene	Schneider A; David VA; Johnson WE ; et al. (2012) How the leopard hides its spots: ASIP mutations and melanism in wild cats.	GP00000065	Asip Q03288	Morphology	nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N	Panthera pardus leopard - (species)	Panthera pardus leopard - (species) D	Agouti	Panthera pardus leopard - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP	Catopuma temminckii Asiatic golden cat - (species)	Intraspecific	Candidate Gene	Schneider A; David VA; Johnson WE ; et al. (2012) How the leopard hides its spots: ASIP mutations and melanism in wild cats.	GP00000066	Asip Q03288	Morphology	C128W (384C>G)	Catopuma temminckii Asiatic golden cat - (species)	Catopuma temminckii Asiatic golden cat - (species)	Agouti	Catopuma temminckii Asiatic golden cat - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Vulpes vulpes red fox - (species) D	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.	GP00000067	Asip Q03288	Morphology	166 bp deletion in exon 1 N	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Agouti	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Agouti	Coloration (feathers)	Coding, Deletion N	Coturnix japonica Japanese quail - (species) D	Domesticated	Linkage Mapping	Hiragaki T; Inoue-Murayama M; Miwa M ; et al. (2008) Recessive black is allelic to the yellow plumage locus in Japanese quail and associated with a frame[...]	GP00000068	Asip Q03288	Morphology	8bp frameshift deletion N	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species) D	Agouti	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Agouti	Coloration (feathers)	Cis-regulatory, Deletion	Coturnix japonica Japanese quail - (species) D	Domesticated	Linkage Mapping	Nadeau NJ; Minvielle F; Ito S ; et al. (2008) Characterization of Japanese quail yellow as a genomic deletion upstream of the avian homolog of the[...] 1 Additional References Robic A; Morisson M; Leroux S (2019) Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotype[...]	GP00000069	Asip Q03288	Morphology	141162-bp deletion resulting in novel promoter sharing and expression of a RALY-ASIP fusion transcript	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species) D	Agouti	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Leopardus colocolo Colocolo - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001731	Asip Q03288	Morphology	Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N	Leopardus colocolo Colocolo - (species)	Leopardus colocolo Colocolo - (species) D	Agouti	Leopardus colocolo Colocolo - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Leopardus guigna Kodkod - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001732	Asip Q03288	Morphology	Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N	Leopardus guigna Kodkod - (species)	Leopardus guigna Kodkod - (species) D	Agouti	Leopardus guigna Kodkod - (species)	Published - Accepted by Curator
Agouti	Coloration (feathers)	Gene Amplification, Insertion	Coturnix japonica Japanese quail - (species) D	Domesticated	Linkage Mapping	Robic A; Morisson M; Leroux S ; et al. (2019) Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotype[...]	GP00001973	Asip Q03288	Morphology	71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene which leads to a transcript coding for a normal ASIP protein	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species) D	Agouti	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	5 Mutations:	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Association Mapping	Linnen CR; Poh YP; Peterson BK ; et al. (2013) Adaptive evolution of multiple traits through multiple mutations at a single gene. 1 Additional References Barrett RDH; Laurent S; Mallarino R (2019) Linking a mutation to survival in wild mice.	GP00001974	Asip Q03288	Morphology	5 mutations	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)	Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Gene Loss, Deletion N	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Candidate Gene	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00001975	Asip Q03288	Morphology	125kb deletion ; recessive mutation N	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)	Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Association Mapping	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00001976	Asip Q03288	Morphology	recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)	Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP	Sciurus niger fox squirrel - (species) D	Intraspecific	Candidate Gene	McRobie HR; Moncrief ND; Mundy NI (2019) Multiple origins of melanism in two species of North American tree squirrel (Sciurus).	GP00002335		Morphology	Gly121Cys	Sciurus niger fox squirrel - (species)	Sciurus niger fox squirrel - (species) D	Agouti	Sciurus niger fox squirrel - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Cis-regulatory, Insertion	Mus musculus molossinus Japanese wild mouse - (subspecies) D	Intraspecific	Candidate Gene	Tanave A; Imai Y; Koide T (2019) Nested retrotransposition in the East Asian mouse genome causes the classical nonagouti mutation.	GP00002386	Asip Q03288	Morphology		Mus musculus molossinus Japanese wild mouse - (subspecies)	Mus musculus molossinus Japanese wild mouse - (subspecies) D	Agouti	Mus musculus molossinus Japanese wild mouse - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Candidate Gene	Berryere TG; Kerns JA; Barsh GS ; et al. (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000060	Asip Q03288	Morphology	c.244G>T + 248G>A ; p.A82S + p.R83H A82S and R83H in Linkage Disequilibrium a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence It is unknown if one or both substitutions alter Agouti protein function	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies)	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Kerns JA; Newton J; Berryere TG ; et al. (2004) Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. 1 Additional References Berryere TG; Kerns JA; Barsh GS (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000061	Asip Q03288	Morphology	R96C ; g.23393552C>T c.286C>T p.R96C	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (skin; hair)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Bonilla C; Boxill LA; Donald SA ; et al. (2005) The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...] 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Voisey J; Gomez-Cabrera Mdel C; Smit DJ (2006) A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.	GP00000070	Asip Q03288	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Agouti (ASIP)	Homo sapiens human - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...] 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00001324	Asip Q03288	Morphology	~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, SNP	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001325	Asip Q03288	Morphology	unidentified promoter silencing	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001331	Asip Q03288	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)	Agouti (ASIP)	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001334	Asip Q03288	Morphology	Ile55Thr	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D	Agouti (ASIP)	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2015) A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]	GP00001335	Asip Q03288	Morphology	c.349T>C p.Cys117Arg	Equus asinus ass - (species)	Equus asinus ass - (species) D	Agouti (ASIP)	Equus asinus ass - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dreger DL; Schmutz SM (2011 Sep-Oct) A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.	GP00001336	Asip Q03288	Morphology	A 239bp SINE insertion in reverse orientation in intron 1	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat) Lifespan	2 Mutations: Coding N	Ovis aries sheep - (species) D	Intraspecific	Linkage Mapping	Gratten J; Pilkington JG; Brown EA ; et al. (2010) The genetic basis of recessive self-colour pattern in a wild sheep population. 1 Additional References Gratten J; Pilkington JG; Brown EA (2012) Selection and microevolution of coat pattern are cryptic in a wild population of sheep.	GP00001356	Asip Q03288	Morphology Physiology	2 mutations	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Forestier L; Allain D ; et al. (2010) Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...] 1 Additional References Sakuma Y; Matsunami M; Takada T (2019) Multiple Conserved Elements Structuring Inverted Repeats in the Mammalian Coat Color-Related Gene As[...]	GP00001968	Asip Q03288	Morphology	an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	D	Intraspecific	Candidate Gene	Miller SM; Guthrie AJ; Harper CK (2016) Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]	GP00001977	Asip Q03288	Morphology	recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N		D	Agouti (ASIP)		Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	Camelus dromedarius Arabian camel - (species) D	Domesticated	Candidate Gene	Almathen F; Elbir H; Bahbahani H ; et al. (2018) Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel. 1 Additional References Alshanbari F; Castaneda C; Juras R (2019) Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Anal[...]	GP00001978	Asip Q03288	Morphology	1-bp deletion at position 23 resulting in frameshift N	Camelus dromedarius Arabian camel - (species)	Camelus dromedarius Arabian camel - (species) D	Agouti (ASIP)	Camelus dromedarius Arabian camel - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus americanus snowshoe hare - (species) D	Intraspecific	Association Mapping	Jones MR; Mills LS; Alves PC ; et al. (2018) Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.	GP00002060	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus americanus snowshoe hare - (species)	Lepus americanus snowshoe hare - (species) D	Agouti (ASIP)	Lepus americanus snowshoe hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus timidus Mountain hare - (species) D	Intraspecific	Association Mapping	Giska I; Farelo L; Pimenta J ; et al. (2019) Introgression drives repeated evolution of winter coat color polymorphism in hares.	GP00002061	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus timidus Mountain hare - (species)	Lepus timidus Mountain hare - (species) D	Agouti (ASIP)	Lepus timidus Mountain hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Morgan HD; Sutherland HG; Martin DI ; et al. (1999) Epigenetic inheritance at the agouti locus in the mouse.	GP00002107	Asip Q03288	Morphology	insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti gene (A). This activates transcription and causes ectopic expression of agouti protein; resulting in yellow fur; obesity; diabetes and increased susceptibility to tumours. The pleiotropic effects of ectopic agouti expression are presumably due to effects of the paracrine signal on other tissues.	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	Agouti (ASIP)	Mus musculus house mouse - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (skin)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Yu S; Wang G; Liao J (2019) Association of a novel SNP in the ASIP gene with skin color in black-bone chicken.	GP00002130	Asip Q03288	Morphology		Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	Agouti (ASIP)	Gallus gallus chicken - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Chandramohan B; Renieri C; La Manna V ; et al. (2013) The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]	GP00002336	Asip Q03288	Morphology	p.R98C likely affecting conformation in a cysteine-rich domain	Vicugna pacos alpaca - (species)	Vicugna pacos alpaca - (species) D	Agouti (ASIP)	Vicugna pacos alpaca - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Bubalus bubalis water buffalo - (species) D	Domesticated	Association Mapping	Liang D; Zhao P; Si J ; et al. (2021) Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]	GP00002370	Asip Q03288	Morphology	"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D	Agouti (ASIP)	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat; dorso-ventral)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Letko A; Ammann B; Jagannathan V ; et al. (2020) A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]	GP00002373	Asip Q03288	Morphology	"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Association Mapping	Guo J; Sun X; Mao A ; et al. (2022) A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation pheno[...]	GP00002380	Asip Q03288	Morphology	"We confirmed that a genomic region harboring the ASIP gene is a major locus affecting the coat color phenotype of Swiss markings in goats. Although the molecular genetic mechanisms remain unsolved, the 13,420-bp duplication upstream of ASIP is a necessary but not sufficient condition for this phenotype in goats. Moreover, the variations in the copy number of the duplication across different goat breeds do not lead to phenotypic heterogeneity."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002381	Asip Q03288	Morphology	"The white Capra Sempione carried one copy of the AWt allele, which is commonly found in Saanen and Appenzell goats. AWt involves a triplication of ~155 kb comprising the coding sequence of the ASIP, AHCY and ITCH genes (Fontanesi et al. 2009; Henkel et al. 2019). Closer inspection of the short-read alignments revealed that the sequenced Capra Sempione had acquired additional smaller structural alterations compared to the original AWt allele, which comprised a duplication of 1053 bp inserted into a 10 194 bp deletion of the original AWt CNV allele (Supplementary Figure S1)."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002382	Asip Q03288	Morphology	"The greyish Grüenochte goat carried one copy of the Apc allele, which causes the characteristic black and white pattern of Swiss Peacock goats (Henkel et al. 2019). The Apc allele consists of a central quadruplication of ~45 kb with triplicated adjacent flanking regions comprising ~28 kb and ~42 kb, respectively."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)	Coloration (stripes)	Cis-regulatory, Unknown	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Interspecific	Linkage Mapping	Kratochwil CF; Liang Y; Gerwin J ; et al. (2018) Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...] 1 Additional References Kratochwil CF; Liang Y; Urban S (2019) Evolutionary Dynamics of Structural Variation at a Key Locus for Color Pattern Diversification in Ci[...]	GP00001764	asip2b J3JQX9	Morphology	Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron	Pundamilia nyererei (species)	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Agouti-related peptide 2 (agrp2)	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)	Coloration (stripes)	Cis-regulatory, Unknown	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Interspecific	Linkage Mapping	Kratochwil CF; Liang Y; Gerwin J ; et al. (2018) Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...] 1 Additional References Kratochwil CF; Liang Y; Urban S (2019) Evolutionary Dynamics of Structural Variation at a Key Locus for Color Pattern Diversification in Ci[...]	GP00001960	asip2b J3JQX9	Morphology	Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron	Pundamilia nyererei (species)	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Agouti-related peptide 2 (agrp2)	Haplochromis sauvagei (species) Haplochromis chilotes (species)	Published - Accepted by Curator
agrecan	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000072	ACAN P16112	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	agrecan	Homo sapiens human - (species)	Published - Accepted by Curator
ALX1	Beak size	Unknown, Unknown	Geospiza (genus) D	Interspecific	Association Mapping	Lamichhaney S; Berglund J; Almén MS ; et al. (2015) Evolution of Darwin's finches and their beaks revealed by genome sequencing. 1 Additional References Almén MS; Lamichhaney S; Berglund J (2016) Adaptive radiation of Darwin's finches revisited using whole genome sequencing.	GP00000081	Alx1 Q8C8B0	Morphology	240kb haplotype with complex variation	Geospiza (genus)	Geospiza (genus) D	ALX1	Geospiza (genus)	Published - Accepted by Curator
an2-like (Stan2)	Coloration (tuber skin)	Cis-regulatory, Unknown	Solanum tuberosum potato - (species)	Domesticated	Linkage Mapping	Jung CS; Griffiths HM; De Jong DM ; et al. (2009) The potato developer (D) locus encodes an R2R3 MYB transcription factor that regulates expression of[...]	GP00000088	AN2 A4GRU8	Morphology	unknown	Solanum tuberosum potato - (species)	Solanum tuberosum potato - (species)	an2-like (Stan2)	Solanum tuberosum potato - (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (fruit)	Cis-regulatory, Unknown	Capsicum chinense (species)	Domesticated	Linkage Mapping	Borovsky Y; Oren-Shamir M; Ovadia R ; et al. (2004) The A locus that controls anthocyanin accumulation in pepper encodes a MYB transcription factor homo[...]	GP00000087	AN2 A4GRU8	Morphology	unknown	Capsicum annuum (species)	Capsicum chinense (species)	anthocyanin2 (an2)	Capsicum chinense (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, Deletion N	Petunia axillaris (species) D	Intraspecific	Candidate Gene	Quattrocchio F; Wing J; van der Woude K ; et al. (1999) Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]	GP00000089	AN2 A4GRU8	Morphology	1bp deletion at a.a. 127; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species) D	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, Insertion N	Petunia axillaris (species) D	Intraspecific	Candidate Gene	Quattrocchio F; Wing J; van der Woude K ; et al. (1999) Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]	GP00000090	AN2 A4GRU8	Morphology	4bp insertion at a.a. 127; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species) D	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, SNP N	Petunia axillaris (species)	Intraspecific	Candidate Gene	Quattrocchio F; Wing J; van der Woude K ; et al. (1999) Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]	GP00000091	AN2 A4GRU8	Morphology	W196* N	Petunia integrifolia (species)	Petunia axillaris (species)	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, Deletion N	Petunia axillaris (species) D	Intraspecific	Candidate Gene	Hoballah ME; Gübitz T; Stuurman J ; et al. (2007) Single gene-mediated shift in pollinator attraction in Petunia.	GP00000092	AN2 A4GRU8	Morphology	1bp deletion; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species) D	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, SNP N	Petunia axillaris (species)	Interspecific	Candidate Gene	Hoballah ME; Gübitz T; Stuurman J ; et al. (2007) Single gene-mediated shift in pollinator attraction in Petunia.	GP00000093	AN2 A4GRU8	Morphology	1 aa substitution; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species)	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, SNP N	Petunia axillaris (species)	Interspecific	Candidate Gene	Hoballah ME; Gübitz T; Stuurman J ; et al. (2007) Single gene-mediated shift in pollinator attraction in Petunia.	GP00000094	AN2 A4GRU8	Morphology	1 aa substitution; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species)	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
apontic-like	Coloration (larval color pattern)	Cis-regulatory, Unknown	Bombyx mori domestic silkworm - (species) D	Domesticated	Linkage Mapping	Yoda S; Yamaguchi J; Mita K ; et al. (2014) The transcription factor Apontic-like controls diverse colouration pattern in caterpillars. 2 Additional References Xiang H; Liu X; Li M (2018) The evolutionary road from wild moth to domestic silkworm. Tomihara K; Andolfatto P; Kiuchi T (2022) Allele-specific knockouts reveal a role for apontic-like in the evolutionary loss of larval melanin [...]	GP00001386	apt O61602	Morphology	233-kb region around apt-like (pS) refined as 33kb interval in apt-like Intron 1 (+p) with uncharacterized haplotype driving apt-like upregulation in derived phenotypes	Bombyx mori domestic silkworm - (species)	Bombyx mori domestic silkworm - (species) D	apontic-like	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
AR	Sensory vibrissae (loss) Penile spine (loss)	Cis-regulatory, Deletion	Homo sapiens human - (species) D	Interspecific	Candidate Gene	McLean CY; Reno PL; Pollen AA ; et al. (2011) Human-specific loss of regulatory DNA and the evolution of human-specific traits.	GP00000102	AR P10275	Morphology Morphology	Enhancer loss	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	AR	Homo sapiens human - (species)	Published - Accepted by Curator
ARHGAP11B	Neocortex development (basal progenitor amplification)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Florio M; Namba T; Pääbo S ; et al. (2016) A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.	GP00001442	ARHGAP11B Q3KRB8	Morphology	c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ARHGAP11B	Homo sapiens human - (species)	Published - Accepted by Curator
aristaless	Coloration (wing, Mullerian mimicry)	Cis-regulatory, Unknown	Heliconius cydno (species) D	Intraspecific	Linkage Mapping	Westerman EL; VanKuren NW; Massardo D ; et al. (2018) Aristaless Controls Butterfly Wing Color Variation Used in Mimicry and Mate Choice.	GP00002059	al Q06453	Morphology	gain of expression - exact mutation unknown	Heliconius cydno (species)	Heliconius cydno (species) D	aristaless	Heliconius cydno (species)	Published - Accepted by Curator
arrow	Coloration (wing)	Cis-regulatory, Unknown	Danaus chrysippus African queen - (species)	Intraspecific	Association Mapping	Martin SH; Singh KS; Gordon IJ ; et al. (2020) Whole-chromosome hitchhiking driven by a male-killing endosymbiont.	GP00002431	cnn P54623	Morphology	The strongest associations with forewing tip (C locus) occur at the gene arrow and a phylogenetic network for a 100-kb region around this gene similarly clusters individuals by phenotype. In Drosophila Arrow is essential for Wnt signalling in wing development	Danaus chrysippus African queen - (species)	Danaus chrysippus African queen - (species)	arrow	Danaus chrysippus African queen - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Gene Loss, Complex Change N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000106	GA20OX1 Q39110	Morphology	Whole gene deletion N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000107	GA20OX1 Q39110	Morphology	-2bp at +297 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000108	GA20OX1 Q39110	Morphology	-1bp "G" at +324 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000109	GA20OX1 Q39110	Morphology	-5bp "G" at +545 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000110	GA20OX1 Q39110	Morphology	-10bp "G" at +784 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000111	GA20OX1 Q39110	Morphology	-29bp at +426 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000112	GA20OX1 Q39110	Morphology	-444bp at +985 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Insertion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000113	GA20OX1 Q39110	Morphology	+1bp "G" at +256 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Insertion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000114	GA20OX1 Q39110	Morphology	+7bp "G" at +961 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Insertion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000115	GA20OX1 Q39110	Morphology	+1bp at +1270 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Insertion N	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000116	GA20OX1 Q39110	Morphology	Transposon insertion at +1355 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000117	GA20OX1 Q39110	Morphology	W46* N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...] 1 Additional References Xu YL; Li L; Wu K (1995) The GA5 locus of Arabidopsis thaliana encodes a multifunctional gibberellin 20-oxidase: molecular cl[...]	GP00000118	GA20OX1 Q39110	Morphology	W271* -G816A according to Fig.3 of Xu et al. 1995 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000119	GA20OX1 Q39110	Morphology	E312* N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000120	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism) Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000121	GA20OX1 Q39110	Morphology Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000122	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000123	GA20OX1 Q39110	Morphology	Splice Site mutation G742A	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Intraspecific	Linkage Mapping	Luo Y; Dong X; Yu T ; et al. (2015) A Single Nucleotide Deletion in Gibberellin20-oxidase1 Causes Alpine Dwarfism in Arabidopsis.	GP00001243	GA20OX1 Q39110	Morphology	-1bp at position 184 causing premature stop N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00001685	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtMYC1	Trichome density (leaf)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Symonds VV; Hatlestad G; Lloyd AM (2011) Natural allelic variation defines a role for ATMYC1: trichome cell fate determination. 1 Additional References Symonds VV; Godoy AV; Alconada T (2005) Mapping quantitative trait loci in multiple populations of Arabidopsis thaliana identifies natural a[...]	GP00001268	BHLH12 Q8W2F1	Morphology	P189A	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtMYC1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
B2	Coloration (bulb)	Cis-regulatory, Insertion N	Allium cepa onion - (species) D	Domesticated	Linkage Mapping	Jo C; Kim S (2019) Transposition of a non-autonomous DNA transposon in the gene coding for a bHLH transcription factor [...]	GP00002058		Morphology	577-bp insertion of a transposable element named AcWHITE in the 5′ upstream region of the white allele of B2. A 8-bp target site duplication (GTTATA AC) and a 7-bp terminal inverted repeat (CAAGGTT) were identified at both ends of this insertion - no SNP detected in the coding region N	Allium cepa onion - (species)	Allium cepa onion - (species) D	B2	Allium cepa onion - (species)	Published - Accepted by Curator
B4GALT7	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Leegwater PA; Vos-Loohuis M; Ducro BJ ; et al. (2016) Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.	GP00002151	B4GALT7 Q9UBV7	Morphology	g.3,772,591C>T ; c.50G>A ; p.R17K ; last nucleotide of exon 1 and leads to a splicing deficiency of B4GALT7 transcripts ; All 29 dwarfs of which DNA was available were homozygous for the mutation . . . the 8 obligate carriers were heterozygous	Equus caballus horse - (species)	Equus caballus horse - (species) D	B4GALT7	Equus caballus horse - (species)	Published - Accepted by Curator
bab	Coloration (abdomen; female)	Cis-regulatory, Unknown	Drosophila yakuba (species)	Interspecific	Candidate Gene	Rogers WA; Salomone JR; Tacy DJ ; et al. (2013) Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]	GP00002008	bab1 Q9W0K7	Morphology	causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.	Drosophila melanogaster fruit fly - (species)	Drosophila yakuba (species)	bab	Drosophila yakuba (species)	Published - Accepted by Curator
bab	Coloration (abdomen; female)	Cis-regulatory, Unknown	Drosophila fuyamai (species)	Interspecific	Candidate Gene	Rogers WA; Salomone JR; Tacy DJ ; et al. (2013) Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]	GP00002009	bab1 Q9W0K7	Morphology	causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.	Drosophila melanogaster fruit fly - (species)	Drosophila fuyamai (species)	bab	Drosophila fuyamai (species)	Published - Accepted by Curator
bab	Coloration (abdomen; female)	Cis-regulatory, Unknown	Drosophila auraria (species)	Interspecific	Candidate Gene	Rogers WA; Salomone JR; Tacy DJ ; et al. (2013) Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]	GP00002010	bab1 Q9W0K7	Morphology	causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.	Drosophila melanogaster fruit fly - (species)	Drosophila auraria (species)	bab	Drosophila auraria (species)	Published - Accepted by Curator
bab	Coloration (abdomen ; sexual trait ; plasticity)	Cis-regulatory, Deletion	Drosophila melanogaster fruit fly - (species) D	Intraspecific	Linkage Mapping	De Castro S; Peronnet F; Gilles JF ; et al. (2018) bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity [...]	GP00002423	bab1 Q9W0K7	Morphology	a 56-bp deletion that removes two binding sites for Abdominal B (Abd-B), a direct activator of bab, is present in a cis-regulatiry region of bab1 (within the first intron of bab1) in the Dark line.	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species) D	bab	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
bab	Coloration (wing; male ; irridescence)	Cis-regulatory, Unknown		Interspecific	Linkage Mapping	Ficarrotta V; Hanly JJ; Loh LS ; et al. (2022) A genetic switch for male UV iridescence in an incipient species pair of sulphur butterflies.	GP00002425	bab1 Q9W0K7	Morphology	no fixed coding variation at the bab locus between the sister species. Lower expression of bab in the irridescent scale species. CRISPR bab mutants show that bab is a negative regulator of irridescent scales.	Colias philodice clouded sulphur butterfly - (species)		bab		Published - Accepted by Curator
bab	Coloration (abdomen; female)	2 Mutations: Cis-regulatory SNP	Drosophila melanogaster fruit fly - (species)	Intraspecific	Candidate Gene	Rogers WA; Salomone JR; Tacy DJ ; et al. (2013) Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]	GP00002610	bab1 Q9W0K7	Morphology	2 mutations	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	bab	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
bab	Coloration (abdomen; female)	2 Mutations: Cis-regulatory SNP	Drosophila melanogaster fruit fly - (species)	Intraspecific	Candidate Gene	Rogers WA; Salomone JR; Tacy DJ ; et al. (2013) Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]	GP00002611	bab1 Q9W0K7	Morphology	2 mutations	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	bab	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
bab1	Coloration (abdomen)	3 Mutations: Cis-regulatory Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Kopp A; Graze RM; Xu S ; et al. (2003) Quantitative trait loci responsible for variation in sexually dimorphic traits in Drosophila melanog[...] 1 Additional References Bickel RD; Kopp A; Nuzhdin SV (2011) Composite effects of polymorphisms near multiple regulatory elements create a major-effect QTL.	GP00000130	bab1 Q9W0K7	Morphology	3 mutations	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	bab1	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
bab1	Coloration (abdomen)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species) D	Interspecific	Candidate Gene	Williams TM; Selegue JE; Werner T ; et al. (2008) The regulation and evolution of a genetic switch controlling sexually dimorphic traits in Drosophila[...]	GP00000131	bab1 Q9W0K7	Morphology	inter - ABD-B- and DSX- binding site spacing was reduced in regions I, II, and III gain of ABD-B binding site 13	Drosophila willistoni (species)	Drosophila melanogaster fruit fly - (species) D	bab1	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
BarH1	Coloration (wing; sex-specific; female-specific)	Cis-regulatory, Insertion	Colias croceus clouded yellow - (species) D	Intraspecific	Association Mapping	Woronik A; Tunström K; Perry MW ; et al. (2019) A transposable element insertion is associated with an alternative life history strategy.	GP00002095	B-H1 Q24255	Morphology	insertion of a Jockey-like transposable element 6 kb downstream of the Colias homolog of BarH-1. BarH-1 expression suppresses orange coloration in the wings.	Colias croceus clouded yellow - (species)	Colias croceus clouded yellow - (species) D	BarH1	Colias croceus clouded yellow - (species)	Published - Accepted by Curator
Barren inflorescence2 (BIF2)	Plant architecture Inflorescence architecture	Unknown, Unknown	Zea mays (species)	Domesticated	Linkage Mapping	Pressoir G; Brown PJ; Zhu W ; et al. (2009) Natural variation in maize architecture is mediated by allelic differences at the PINOID co-ortholog[...] 1 Additional References Buckler ES; Holland JB; Bradbury PJ (2009) The genetic architecture of maize flowering time.	GP00000135	bif2 A6MW92	Morphology Morphology	unknown	Zea mays (species)	Zea mays (species)	Barren inflorescence2 (BIF2)	Zea mays (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001332	BCO2 Q9BYV7	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)	BCO2 = beta-carotene oxygenase 2	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (bill, legs)	Coding, SNP N	Serinus canaria common canary - (species) D	Domesticated	Association Mapping	Gazda MA; Toomey MB; Araújo PM ; et al. (2020) GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.	GP00002039	BCO2 Q9BYV7	Morphology	point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N	Serinus canaria common canary - (species)	Serinus canaria common canary - (species) D	BCO2 = beta-carotene oxygenase 2	Serinus canaria common canary - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (ventral scales)	Cis-regulatory, Unknown	Podarcis muralis Common wall lizard - (species)	Intraspecific	Association Mapping	Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019) Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]	GP00002120	Bco2 Q99NF1	Morphology		Podarcis muralis Common wall lizard - (species)	Podarcis muralis Common wall lizard - (species)	BCO2 = beta-carotene oxygenase 2	Podarcis muralis Common wall lizard - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (sexual dichromatism, male-specific)	Unknown, Unknown	Serinus canaria common canary - (species)	Intergeneric or Higher	Linkage Mapping	Gazda MA; Araújo PM; Lopes RJ ; et al. (2020) A genetic mechanism for sexual dichromatism in birds.	GP00002139	BCO2 Q9BYV7	Morphology	Gene expression study suggests a cis-regulatory difference ; and coding mutations are unlikely to be causal	Spinus cucullatus red siskin - (species)	Serinus canaria common canary - (species)	BCO2 = beta-carotene oxygenase 2	Serinus canaria common canary - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (beak)	Cis-regulatory, Unknown	Geospiza scandens (species) D Geospiza fortis medium ground-finch - (species) D Geospiza conirostris (species) D Geospiza magnirostris (species) D Geospiza fuliginosa (species) D Camarhynchus parvulus (species) D Camarhynchus pauper (species) D Camarhynchus pallidus woodpecker finch - (species) D Geospiza difficilis (species) D	Intraspecific	Association Mapping	Enbody ED; Sprehn CG; Abzhanov A ; et al. (2021) A multispecies BCO2 beak color polymorphism in the Darwin's finch radiation.	GP00002384	BCO2 Q9BYV7	Morphology	"By closely inspecting this region in a combined sample of all 456 finches of the two species we identified a single exonic SNP with a likelihood ratio test (LRT) statistic exceeding 166 (Figure 1C). It is also the only consistently elevated SNP in an analysis of each species alone (Figure S1), is the best fit variant under a recessive model (STAR Methods), and occurs on multiple haplotypes (Figure S1C). This SNP (chr24:6,166,878; p6166878 hereafter) leads to a synonymous change 32 bp into exon 4 of BCO2. " "The functional importance of the observed synonymous change is uncertain, and the presence of an unidentified linked causal variant cannot be completely ruled out (see Conclusions). However, a functional explanation is possible because codon usage can be under strong selection30 and may have functional consequences on translation,30 RNA stability,31 and transcription.32 Notably, p6166878 changes the highest frequency valine codon (ƒGTG = 27.3%) to the lowest (ƒGTA = 7.6%) in the reference genome. This is in line with the observed phenotypic effect of the yellow mutation because a lower abundance codon is expected to be associated with lower protein expression.33 In this case, less BCO2 activity results in more carotenoid deposition in the yellow morph. In fact, we found that yellow homozygotes showed significantly lower BCO2 expression compared to pink homozygotes in the upper beak of developing embryos (Figure 1F) that were sourced from a variety of different species and islands (Table S1): small sample sizes prohibit species-specific analysis. Among the six heterozygous individuals, the pink allele was expressed more than the yellow allele in five samples tested using a droplet-digital PCR (Figure S2C). Differences in expression between the two alleles, and in the absence of alternative splice variants (STAR Methods), raise the possibility that the synonymous change alters transcription factor binding affinity in exon 4. Further research into tissue-specific expression and the specific transcription factors that regulate BCO2 is warranted."	Geospiza scandens (species) Geospiza fortis medium ground-finch - (species) Geospiza conirostris (species) Geospiza magnirostris (species) Geospiza fuliginosa (species) Camarhynchus parvulus (species) Camarhynchus pauper (species) Camarhynchus pallidus woodpecker finch - (species) Geospiza difficilis (species)	Geospiza scandens (species) D Geospiza fortis medium ground-finch - (species) D Geospiza conirostris (species) D Geospiza magnirostris (species) D Geospiza fuliginosa (species) D Camarhynchus parvulus (species) D Camarhynchus pauper (species) D Camarhynchus pallidus woodpecker finch - (species) D Geospiza difficilis (species) D	BCO2 = beta-carotene oxygenase 2	Geospiza scandens (species) Geospiza fortis medium ground-finch - (species) Geospiza conirostris (species) Geospiza magnirostris (species) Geospiza fuliginosa (species) Camarhynchus parvulus (species) Camarhynchus pauper (species) Camarhynchus pallidus woodpecker finch - (species) Geospiza difficilis (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (feather)	Unknown, Unknown	Setophaga petechia yellow warbler - (species) D	Interspecific	Association Mapping	Baiz MD; Wood AW; Brelsford A ; et al. (2021) Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]	GP00002387	BCO2 Q9BYV7	Morphology		Setophaga pensylvanica Chestnut-sided warbler - (species)	Setophaga petechia yellow warbler - (species) D	BCO2 = beta-carotene oxygenase 2	Setophaga petechia yellow warbler - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (feather)	Unknown, Unknown	Setophaga citrina hooded warbler - (species) D	Interspecific	Association Mapping	Baiz MD; Wood AW; Brelsford A ; et al. (2021) Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]	GP00002388	BCO2 Q9BYV7	Morphology		Setophaga ruticilla (species)	Setophaga citrina hooded warbler - (species) D	BCO2 = beta-carotene oxygenase 2	Setophaga citrina hooded warbler - (species)	Published - Accepted by Curator
Bh4	Coloration (seed hull)	Coding, Deletion N	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Zhu BF; Si L; Wang Z ; et al. (2011) Genetic control of a transition from black to straw-white seed hull in rice domestication. 1 Additional References Huang X; Kurata N; Wei X (2012) A map of rice genome variation reveals the origin of cultivated rice.	GP00000143	Bh4 A0A0H3ZGK8	Morphology	22-bp deletion N	Oryza rufipogon (species)	Oryza sativa rice - (species) D	Bh4	Oryza sativa rice - (species)	Published - Accepted by Curator
bHLH2	Coloration (flower; seed)	Coding, Insertion N	Ipomoea purpurea common morning-glory - (species) D	Domesticated	Candidate Gene	Park KI; Ishikawa N; Morita Y ; et al. (2007) A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]	GP00002078	BHLH2 Q9CAD0	Morphology	two copies of 3.9-kb Tip100 integrated into bHLH2 exon 7 and intron 2 N	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	bHLH2	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
bHLH2	Coloration (flower; seed)	Coding, Insertion N	Ipomoea purpurea common morning-glory - (species) D	Domesticated	Candidate Gene	Park KI; Ishikawa N; Morita Y ; et al. (2007) A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]	GP00002085	BHLH2 Q9CAD0	Morphology	only one copy of Tip100 in exon 7 and no apparent footprint of Tip100 in intron 2 N	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	bHLH2	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
bHLH2	Coloration (flower; seed)	Coding, Insertion N	Ipomoea purpurea common morning-glory - (species) D	Domesticated	Candidate Gene	Park KI; Ishikawa N; Morita Y ; et al. (2007) A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]	GP00002086	BHLH2 Q9CAD0	Morphology	insertion of 838 bp IpMu1 in exon 2 N	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	bHLH2	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
bHLH2	Coloration (flowers; seeds)	Coding, Insertion N	Ipomoea tricolor (species) D	Domesticated	Candidate Gene	Park KI; Choi JD; Hoshino A ; et al. (2004) An intragenic tandem duplication in a transcriptional regulatory gene for anthocyanin biosynthesis c[...]	GP00002091	BHLH2 Q9CAD0	Morphology	intragenic tandem duplication of 3.3 kbp of the bHLH2 gene. Each of the tandem repeats is flanked by a 3-bp sequence AAT; indicating that the 3-bp microhomology is used to generate the tandem duplication. The transcripts in the pale-blue flower buds of the mutant contain an internal 583-bp tandem duplication that results in the production of a truncated polypeptide lacking the bHLH domain. The mRNA accumulation of most of the structural genes encoding enzymes for anthocyanin biosynthesis in the flower buds of the mutant was significantly reduced. The transcripts identical to the wild-type mRNAs for the transcriptional activator were present abundantly in blue spots of the variegated flowers whereas the transcripts containing the 583-bp tandem duplication were predominant in the pale-blue background of the same flowers. The flower and seed variegations studied here are likely to be caused by somatic homologous recombination between an intragenic tandem duplication in the gene encoding a bHLH transcriptional activator for anthocyanin biosynthesis. N	Ipomoea tricolor (species)	Ipomoea tricolor (species) D	bHLH2	Ipomoea tricolor (species)	Published - Accepted by Curator
bHLH2	Coloration (flowers)	Coding, Insertion N	Petunia axillaris (species) D	Domesticated	Candidate Gene	Spelt C; Quattrocchio F; Mol J ; et al. (2002) ANTHOCYANIN1 of petunia controls pigment synthesis, vacuolar pH, and seed coat development by geneti[...]	GP00002092	BHLH2 Q9CAD0	Morphology	insertion of a dTph1 transposon in the AN1 gene N	Petunia axillaris (species)	Petunia axillaris (species) D	bHLH2	Petunia axillaris (species)	Published - Accepted by Curator
Bm-iAANAT	Coloration (larva)	Coding, Deletion N	Bombyx mori domestic silkworm - (species) D	Domesticated	Linkage Mapping	Zhan S; Guo Q; Li M ; et al. (2010) Disruption of an N-acetyltransferase gene in the silkworm reveals a novel role in pigmentation. 1 Additional References Dai FY; Qiao L; Tong XL (2010) Mutations of an arylalkylamine-N-acetyltransferase, Bm-iAANAT, are responsible for silkworm melanism[...]	GP00000145	Aanat D6MKR2	Morphology	126-bp deletion overlapping with end of exon 4 and resulting in misplicing. Linkage analysis and genomic studies have shown that Bombyx arylalkamine-N-acetyl transferase, the homologous gene (Dat) that converts dopamine into N-acetyl dopamine, encodes a precursor of N-acetyl dopamine, sclerotin in Drosophila and it is the gene responsible for mln. N	Bombyx mori domestic silkworm - (species)	Bombyx mori domestic silkworm - (species) D	Bm-iAANAT	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
BMP2	Fertility (egg production) Bird head morphology (male comb)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Johnsson M; Gustafson I; Rubin CJ ; et al. (2012) A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during d[...] 1 Additional References Johnsson M; Rubin CJ; Höglund A (2014) The role of pleiotropy and linkage in genes affecting a sexual ornament and bone allocation in the c[...]	GP00000151	BMP2 Q90751	Physiology Morphology	unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	BMP2	Gallus gallus chicken - (species)	Published - Accepted by Curator
BMP3 or PRKG2	Cranio-facial morphology	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012) Variation of BMP3 contributes to dog breed skull diversity.	GP00000152	Bmp3 Q8BHE5	Morphology	F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	BMP3 or PRKG2	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
BMP4 (uncertain)	Cranio-facial morphology	Unknown, Unknown	Maylandia zebra zebra mbuna - (species)	Interspecific	Linkage Mapping	Albertson RC; Streelman JT; Kocher TD ; et al. (2005) Integration and evolution of the cichlid mandible: the molecular basis of alternate feeding strategi[...] 2 Additional References Albertson RC; Streelman JT; Kocher TD (2005) Integration and evolution of the cichlid mandible: the molecular basis of alternate feeding strategi[...] Albertson RC; Kocher TD (2006) Genetic and developmental basis of cichlid trophic diversity.	GP00000153	bmp4 O13107	Morphology	Not identified	Labeotropheus fuelleborni blue mbuna - (species)	Maylandia zebra zebra mbuna - (species)	BMP4 (uncertain)	Maylandia zebra zebra mbuna - (species)	Published - Accepted by Curator
BMP6	Tooth number	Cis-regulatory, Unknown	Gasterosteus aculeatus three-spined stickleback - (species) D	Intraspecific	Linkage Mapping	Cleves PA; Ellis NA; Jimenez MT ; et al. (2014) Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6. 2 Additional References Ellis NA; Glazer AM; Donde NN (2015) Distinct developmental genetic mechanisms underlie convergently evolved tooth gain in sticklebacks. Erickson PA; Cleves PA; Ellis NA (2015) A 190 base pair, TGF-β responsive tooth and fin enhancer is required for stickleback Bmp6 expression[...]	GP00000154	Bmp6 P20722	Morphology	Candidate enhancer of 190bp recapitulating tooth and fin expression of BMP6	Gasterosteus aculeatus three-spined stickleback - (species)	Gasterosteus aculeatus three-spined stickleback - (species) D	BMP6	Gasterosteus aculeatus three-spined stickleback - (species)	Published - Accepted by Curator
BRANCHED1a (BRC1a)	Plant architecture Inflorescence architecture	Coding, SNP	Solanum (genus) D	Intergeneric or Higher	Candidate Gene	Nicolas M; Rodríguez-Buey ML; Franco-Zorrilla JM ; et al. (2015) A Recently Evolved Alternative Splice Site in the BRANCHED1a Gene Controls Potato Plant Architecture[...]	GP00000156	BRC1A F6KB94	Morphology Morphology	Evolution of an alternative splice site (G>A) that unlocks a short isoform	Capsicum annuum (species)	Solanum (genus) D	BRANCHED1a (BRC1a)	Solanum (genus)	Published - Accepted by Curator
Brassinosteroid-deficient dwarf1 (brd1)	Plant size (height)	Unknown, Unknown	Zea mays (species)	Intraspecific	Linkage Mapping	Peiffer JA; Romay MC; Gore MA ; et al. (2014) The genetic architecture of maize height.	GP00001628	ZEAMMB73_Zm00001d033180 A0A1D6KWT1	Morphology	On chromosome 1 two C>T transitions reduce plant height in 18RIL families	Zea mays (species)	Zea mays (species)	Brassinosteroid-deficient dwarf1 (brd1)	Zea mays (species)	Published - Accepted by Curator
Brevis radix (BRX)	Root size (shorter)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Mouchel CF; Briggs GC; Hardtke CS (2004) Natural genetic variation in Arabidopsis identifies BREVIS RADIX, a novel regulator of cell prolifer[...]	GP00000157	BRX Q17TI5	Morphology	premature stop codon in exon 4; TGG>TGA; truncated protein missing approximately two-thirds of the C terminus N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	Brevis radix (BRX)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
Brevis radix (BRX)	Root growth	Coding, Deletion	Arabidopsis thaliana thale cress - (species) D	Intraspecific	Linkage Mapping	Beuchat J; Li S; Ragni L ; et al. (2010) A hyperactive quantitative trait locus allele of Arabidopsis BRX contributes to natural variation in[...]	GP00001262	BRX Q17TI5	Morphology	21bp deletion at position in spacer 3 (position not given)	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	Brevis radix (BRX)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
c1	Coloration (seed)	Cis-regulatory, Insertion	Zea mays (species) D	Domesticated	Linkage Mapping	Hattori T; Vasil V; Rosenkrans L ; et al. (1992) The Viviparous-1 gene and abscisic acid activate the C1 regulatory gene for anthocyanin biosynthesis[...] 1 Additional References Hanson MA; Gaut BS; Stec AO (1996) Evolution of anthocyanin biosynthesis in maize kernels: the role of regulatory and enzymatic loci.	GP00000167	C1 P10290	Morphology	5bp insertion in the proximal promoter that creates a new binding site for VP1; a transcription factor that regulates kernel maturation; so that the pigment pathway is turned on while the kernel matures; giving blue kernels	Zea mays (species)	Zea mays (species) D	c1	Zea mays (species)	Published - Accepted by Curator
Camta3	Plant size (height)	Unknown, Unknown	Zea mays (species)	Intraspecific	Association Mapping	Peiffer JA; Romay MC; Gore MA ; et al. (2014) The genetic architecture of maize height.	GP00001629	CAMTA3 Q8GSA7	Morphology	C>T transition on chromosome 3	Zea mays (species)	Zea mays (species)	Camta3	Zea mays (species)	Published - Accepted by Curator
cardinal	Coloration (eyes)	Coding, Insertion N	Tribolium castaneum red flour beetle - (species) D	Domesticated	Candidate Gene	Shirai Y; Daimon T (2020) Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]	GP00002665	cd Q9VCW2	Morphology	A fragment of a transposable element (about 5 kb - 99% identical in amino acids to a putative retrotransposon (XP_015838217)) is inserted into exon 6. This insertion introduced a premature stop codon just after the insertion site. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N	Tribolium castaneum red flour beetle - (species)	Tribolium castaneum red flour beetle - (species) D	cardinal	Tribolium castaneum red flour beetle - (species)	Published - Accepted by Curator
cardinal	Coloration (eyes)	Coding, Deletion N	Tribolium castaneum red flour beetle - (species) D	Domesticated	Candidate Gene	Shirai Y; Daimon T (2020) Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]	GP00002666	cd Q9VCW2	Morphology	1-bp deletion in exon 6 that causes a frameshift mutation. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N	Tribolium castaneum red flour beetle - (species)	Tribolium castaneum red flour beetle - (species) D	cardinal	Tribolium castaneum red flour beetle - (species)	Published - Accepted by Curator
cardinal	Coloration (eyes)	Coding, SNP N	Bombyx mori domestic silkworm - (species) D	Domesticated	Candidate Gene	Osanai-Futahashi M; Tatematsu KI; Futahashi R ; et al. (2016) Positional cloning of a Bombyx pink-eyed white egg locus reveals the major role of cardinal in ommoc[...]	GP00002667	cd Q9VCW2	Morphology	Missense mutation in a conserved motif in exon 9. The tryptophan residue which is converted to arginine in the two pe strains is widely conserved in holometabolous insects. N	Bombyx mori domestic silkworm - (species)	Bombyx mori domestic silkworm - (species) D	cardinal	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
Carotenoid-binding protein (CBP)	Coloration (silk)	Gene Amplification, Complex Change	Bombyx mori domestic silkworm - (species) D	Domesticated	Linkage Mapping	Sakudoh T; Nakashima T; Kuroki Y ; et al. (2011) Diversity in copy number and structure of a silkworm morphogenetic gene as a result of domestication[...] 1 Additional References Xiang H; Liu X; Li M (2018) The evolutionary road from wild moth to domestic silkworm.	GP00000169	Q1HE01	Morphology	Copy Number Variation (up to 20 copies in B. mori ; only one in the wild form; B. mandarina)	Bombyx mandarina wild silkworm - (species)	Bombyx mori domestic silkworm - (species) D	Carotenoid-binding protein (CBP)	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
Catecholamines up	Bristle number Lifespan Locomotor activity Sleep	Coding, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Carbone MA; Jordan KW; Lyman RF ; et al. (2006) Phenotypic variation and natural selection at catsup, a pleiotropic quantitative trait gene in Droso[...] 1 Additional References Stein MB; Koverola C; Hanna C (1997) Hippocampal volume in women victimized by childhood sexual abuse.	GP00000172	Catsup Q9V3A4	Morphology Physiology Behavior Behavior	unknown; but most large-effect variants appear to be coding	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	Catecholamines up	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
Cauliflower (BoCAL)	Inflorescence morphology	Coding, SNP N	Brassica oleracea var. botrytis (varietas) D	Domesticated	Candidate Gene	Kempin SA; Savidge B; Yanofsky MF (1995) Molecular basis of the cauliflower phenotype in Arabidopsis. 1 Additional References Purugganan MD; Boyles AL; Suddith JI (2000) Variation and selection at the CAULIFLOWER floral homeotic gene accompanying the evolution of domest[...]	GP00000173	CAL Q39081	Morphology	GAG>TAG; E151*; protein truncated after only 150 of the 255 amino acids of the wild-type protein N	Brassica oleracea wild cabbage - (species)	Brassica oleracea var. botrytis (varietas) D	Cauliflower (BoCAL)	Brassica oleracea var. botrytis (varietas)	Published - Accepted by Curator
ccdc170	Coloration	Unknown, Unknown	Anolis sagrei Brown anole - (species)	Intraspecific	Association Mapping	Feiner N; Brun-Usan M; Andrade P ; et al. (2022) A single locus regulates a female-limited color pattern polymorphism in a reptile.	GP00002363	Ccdc170 D3YXL0	Morphology		Anolis sagrei Brown anole - (species)	Anolis sagrei Brown anole - (species)	ccdc170	Anolis sagrei Brown anole - (species)	Published - Accepted by Curator
CDKN2A	Coloration (feathers ; sex-linked dilution)	2 Mutations:	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017) The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...] 1 Additional References Hellström AR; Sundström E; Gunnarsson U (2010) Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus.	GP00000178	CDKN2A P42771	Morphology	2 mutations	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	CDKN2A	Gallus gallus chicken - (species)	Published - Accepted by Curator
CDKN2A	Coloration (feathers ; sex-linked barring)	2 Mutations:	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017) The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...] 1 Additional References Hellström AR; Sundström E; Gunnarsson U (2010) Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus.	GP00002162	CDKN2A P42771	Morphology	2 mutations	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	CDKN2A	Gallus gallus chicken - (species)	Published - Accepted by Curator
Chalcone synthase D (CHS-D)	Coloration (flower)	Unknown, Insertion	Ipomoea purpurea common morning-glory - (species) D	Intraspecific	Candidate Gene	Habu Y; Hisatomi Y; Iida S (1998) Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]	GP00001459	CHSD O22045	Morphology	insertion of a 3.9kb long transposable element Tip100 in intron	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	Chalcone synthase D (CHS-D)	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
Chalcone synthase D (CHS-D)	Coloration (flower)	Unknown, Insertion	Ipomoea purpurea common morning-glory - (species) D	Intraspecific	Candidate Gene	Habu Y; Hisatomi Y; Iida S (1998) Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]	GP00001460	CHSD O22045	Morphology	2 insertions of Tip100 in opposite orientation at different sites within the same intron	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	Chalcone synthase D (CHS-D)	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
Chalk5	Grain chalkiness Amylose content Grain yield	Cis-regulatory, SNP	Oryza sativa rice - (species)	Intraspecific	Linkage Mapping	Li Y; Fan C; Xing Y ; et al. (2014) Chalk5 encodes a vacuolar H(+)-translocating pyrophosphatase influencing grain chalkiness in rice.	GP00001309	Chalk5 A2Y0L3	Morphology Physiology Physiology	Two candidate SNPs at positions -721 and - 485 in promoter region	Oryza sativa rice - (species)	Oryza sativa rice - (species)	Chalk5	Oryza sativa rice - (species)	Published - Accepted by Curator
chordin	Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)	Coding, SNP N	Carassius auratus goldfish - (species) D	Domesticated	Candidate Gene	Abe G; Lee SH; Chang M ; et al. (2014) The origin of the bifurcated axial skeletal system in the twin-tail goldfish. 1 Additional References Kon T; Omori Y; Fukuta K (2020) The Genetic Basis of Morphological Diversity in Domesticated Goldfish.	GP00002346	chdA W8VTE1	Morphology	stop codon in codon 127. GAG (E) -> TAG (STOP). Predicted to result in a truncated protein lacking the second to fourth CR domains. N	Carassius auratus goldfish - (species)	Carassius auratus goldfish - (species) D	chordin	Carassius auratus goldfish - (species)	Published - Accepted by Curator
CLV3	Fruit size	Cis-regulatory, Inversion	Solanum lycopersicum tomato - (species) D	Domesticated	Linkage Mapping	Xu C; Liberatore KL; MacAlister CA ; et al. (2015) A cascade of arabinosyltransferases controls shoot meristem size in tomato.	GP00001565	CLV3 Q9XF04	Morphology	A 294 kb inversion with a breakpoint 1 kb upstream of CLV3	Solanum pimpinellifolium (species)	Solanum lycopersicum tomato - (species) D	CLV3	Solanum lycopersicum tomato - (species)	Published - Accepted by Curator
cly1	Pollen shedding (Cleistogamy; lodicule size)	Cis-regulatory, SNP	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Nair SK; Wang N; Turuspekov Y ; et al. (2010) Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...] 1 Additional References Turuspekov Y; Mano Y; Honda I (2004) Identification and mapping of cleistogamy genes in barley.	GP00001314	AP2 P47927	Morphology	A>G @position 3084; in a miRNA targeting site.	Hordeum vulgare (species)	Hordeum vulgare (species) D	cly1	Hordeum vulgare (species)	Published - Accepted by Curator
cly1	Pollen shedding (Cleistogamy; lodicule size)	Cis-regulatory, SNP	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Nair SK; Wang N; Turuspekov Y ; et al. (2010) Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...] 1 Additional References Turuspekov Y; Mano Y; Honda I (2004) Identification and mapping of cleistogamy genes in barley.	GP00001315	AP2 P47927	Morphology	A>C @position 3090; in a miRNA targeting site.	Hordeum vulgare (species)	Hordeum vulgare (species) D	cly1	Hordeum vulgare (species)	Published - Accepted by Curator
cly1	Pollen shedding (Cleistogamy; lodicule size)	Cis-regulatory, Epigenetic Change	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Wang N; Ning S; Wu J ; et al. (2015) An epiallele at cly1 affects the expression of floret closing (cleistogamy) in barley.	GP00001316	AP2 P47927	Morphology	T>C @position -245; creating differential methylation	Hordeum vulgare (species)	Hordeum vulgare (species) D	cly1	Hordeum vulgare (species)	Published - Accepted by Curator
coatomer protein complex subunit alpha (COPA)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Henegar C; Liao X ; et al. (2015) Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]	GP00001329	COPA P53621	Morphology	c.C>T p.Arg160Cys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	coatomer protein complex subunit alpha (COPA)	Bos taurus cattle - (species)	Published - Accepted by Curator
colored plant 1	Coloration (seed)	Cis-regulatory, Unknown	Zea mays (species)	Domesticated	Linkage Mapping	Radicella JP; Brown D; Tolar LA ; et al. (1992) Allelic diversity of the maize B regulatory gene: different leader and promoter sequences of two B a[...]	GP00000190	b1 W5S3Q3	Morphology	Not identified	Zea mays (species)	Zea mays (species)	colored plant 1	Zea mays (species)	Published - Accepted by Curator
CORIN	Coloration (coat)	Coding, SNP	Panthera tigris tiger - (species) D	Intraspecific	Linkage Mapping	Xu X; Dong GX; Schmidt-Küntzel A ; et al. (2017) The genetics of tiger pelage color variations.	GP00002169	Corin Q9Z319	Morphology	c.1759C >T p.H587Y	Panthera tigris tiger - (species)	Panthera tigris tiger - (species) D	CORIN	Panthera tigris tiger - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; industrial melanism ; camouflage)	Cis-regulatory, Insertion	Biston betularia pepper-and-salt moth - (species) D	Intraspecific	Linkage Mapping	Van't Hof AE; Campagne P; Rigden DJ ; et al. (2016) The industrial melanism mutation in British peppered moths is a transposable element.	GP00001804	cort Q960N3	Morphology	Putative transposon insertion within the first intron ; consists of of ~9 kb tandemly repeated 2.3 times + three short tandem subrepeat units	Biston betularia pepper-and-salt moth - (species)	Biston betularia pepper-and-salt moth - (species) D	cortex	Biston betularia pepper-and-salt moth - (species)	Published - Accepted by Curator
cortex	Coloration (wing)	Cis-regulatory, Deletion	Heliconius melpomene postman butterfly - (species) D	Domesticated	Association Mapping	Hanly JJ; Livraghi L; Heryanto C ; et al. (2022) A large deletion at the cortex locus eliminates butterfly wing patterning.	GP00001805	cort Q960N3	Morphology	78-kb deletion in the 5′ region of the cortex gene that includes a facultative 5′UTR exon detected in larval wing disk transcriptomes. Phenotypic effect confirmed by CRISPR mutagenesis of this exon. The ivory deletion causes the loss of 1 of 2 promoters.	Heliconius melpomene postman butterfly - (species)	Heliconius melpomene postman butterfly - (species) D	cortex	Heliconius melpomene postman butterfly - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; leaf mimicry ; camouflage)	Cis-regulatory, Complex Change	Kallima inachus orange oakleaf - (species) D	Intraspecific	Association Mapping	Wang S; Teng D; Li X ; et al. (2022) The evolution and diversification of oakleaf butterflies.	GP00002413	cort Q960N3	Morphology		Kallima inachus orange oakleaf - (species)	Kallima inachus orange oakleaf - (species) D	cortex	Kallima inachus orange oakleaf - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; leaf mimicry ; camouflage)	Cis-regulatory, Unknown	Kallima inachus orange oakleaf - (species) D	Intraspecific	Association Mapping	Wang S; Teng D; Li X ; et al. (2022) The evolution and diversification of oakleaf butterflies.	GP00002414	cort Q960N3	Morphology		Kallima inachus orange oakleaf - (species)	Kallima inachus orange oakleaf - (species) D	cortex	Kallima inachus orange oakleaf - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; leaf mimicry ; camouflage)	Cis-regulatory, Unknown	Kallima inachus orange oakleaf - (species) D	Intraspecific	Association Mapping	Wang S; Teng D; Li X ; et al. (2022) The evolution and diversification of oakleaf butterflies.	GP00002415	cort Q960N3	Morphology		Kallima inachus orange oakleaf - (species)	Kallima inachus orange oakleaf - (species) D	cortex	Kallima inachus orange oakleaf - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; leaf mimicry ; camouflage)	Cis-regulatory, Unknown	Kallima inachus orange oakleaf - (species) D	Intraspecific	Association Mapping	Wang S; Teng D; Li X ; et al. (2022) The evolution and diversification of oakleaf butterflies.	GP00002416	cort Q960N3	Morphology	Large inversion and many mutations in the large inverted region.	Kallima inachus orange oakleaf - (species)	Kallima inachus orange oakleaf - (species) D	cortex	Kallima inachus orange oakleaf - (species)	Published - Accepted by Curator
cortex	Coloration (wing ; body)	Unknown, Unknown	Bombyx mori domestic silkworm - (species)	Domesticated	Linkage Mapping	Ito K; Katsuma S; Kuwazaki S ; et al. (2016) Mapping and recombination analysis of two moth colour mutations, Black moth and Wild wing spot, in t[...]	GP00002417	cort Q960N3	Morphology	Mapping to a 2-Mb-long region which contains the cortex gene.	Bombyx mori domestic silkworm - (species)	Bombyx mori domestic silkworm - (species)	cortex	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
cortex	Coloration (wing)	Unknown, Unknown	Bombyx mori domestic silkworm - (species)	Domesticated	Linkage Mapping	Ito K; Katsuma S; Kuwazaki S ; et al. (2016) Mapping and recombination analysis of two moth colour mutations, Black moth and Wild wing spot, in t[...]	GP00002418	cort Q960N3	Morphology	Mapping to a 100-kb-long region which contains the cortex gene.	Bombyx mori domestic silkworm - (species)	Bombyx mori domestic silkworm - (species)	cortex	Bombyx mori domestic silkworm - (species)	Published - Accepted by Curator
cortex	Coloration (wing; mimicry)	Unknown, Unknown	Papilio clytia common mime swallowtail - (species)	Intraspecific	Association Mapping	VanKuren NW; Massardo D; Nallu S ; et al. (2019) Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]	GP00002419	cort Q960N3	Morphology	Mapping to a 500-kb region that contains the cortex gene	Papilio clytia common mime swallowtail - (species)	Papilio clytia common mime swallowtail - (species)	cortex	Papilio clytia common mime swallowtail - (species)	Published - Accepted by Curator
cortex	Coloration (wing; seasonal)	Cis-regulatory, Unknown	Junonia coenia buckeye - (species) D	Experimental Evolution	Association Mapping	van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020) Genomic architecture of a genetically assimilated seasonal color pattern.	GP00002420	cort Q960N3	Morphology	No variation in coding region. Strong association with cis-regulatory SNP.	Junonia coenia buckeye - (species)	Junonia coenia buckeye - (species) D	cortex	Junonia coenia buckeye - (species)	Published - Accepted by Curator
cortex	Coloration (wing)	Cis-regulatory, Insertion	Heliconius melpomene postman butterfly - (species) D	Intraspecific	Association Mapping	Livraghi L; Hanly JJ; Van Bellghem SM ; et al. (2021) Cortex cis-regulatory switches establish scale colour identity and pattern diversity in Heliconius.	GP00002660	cort Q960N3	Morphology	Insertion of two transposable elements (BovB-like and Helitron-like)	Heliconius melpomene postman butterfly - (species)	Heliconius melpomene postman butterfly - (species) D	cortex	Heliconius melpomene postman butterfly - (species)	Published - Accepted by Curator
CREBRF	Body size (obesity)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Minster RL; Hawley NL; Su CT ; et al. (2016) A thrifty variant in CREBRF strongly influences body mass index in Samoans.	GP00001444	CREBRF Q8IUR6	Morphology	c.1370G>A p.Arg457Gln	Homo sapiens human - (species)	Homo sapiens human - (species) D	CREBRF	Homo sapiens human - (species)	Published - Accepted by Curator
Cryptochrome 2 (CRY2) EDI allele	Flowering time Fruit shape (fruit length) Flower morphology (ovule number per fruit) Fertility (percentage of unfertilized ovules)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	El-Din El-Assal S; Alonso-Blanco C; Peeters AJ ; et al. (2001) A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2. 3 Additional References Olsen KM; Halldorsdottir SS; Stinchcombe JR (2004) Linkage disequilibrium mapping of Arabidopsis CRY2 flowering time alleles. el-Assal SE; Alonso-Blanco C; Hanhart CJ (2004) Pleiotropic effects of the Arabidopsis cryptochrome 2 allelic variation underlie fruit trait-related[...] Botto JF; Alonso-Blanco C; Garzarón I (2003) The Cape Verde Islands allele of cryptochrome 2 enhances cotyledon unfolding in the absence of blue [...]	GP00000192	CRY2 Q96524	Physiology Morphology Morphology Physiology	V367M	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	Cryptochrome 2 (CRY2) EDI allele	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
csf1	Coloration	Cis-regulatory, Unknown	Oryzias woworae (species) D	Interspecific	Linkage Mapping	Ansai S; Mochida K; Fujimoto S ; et al. (2021) Genome editing reveals fitness effects of a gene for sexual dichromatism in Sulawesian fishes.	GP00002366	CSF1 P09603	Morphology		Oryzias celebensis Celebes medaka - (species)	Oryzias woworae (species) D	csf1	Oryzias woworae (species)	Published - Accepted by Curator
csf1a	Coloration (loss of stripes)	Cis-regulatory, Unknown	Danio albolineatus pearl danio - (species) D	Interspecific	Candidate Gene	Patterson LB; Bain EJ; Parichy DM (2014) Pigment cell interactions and differential xanthophore recruitment underlying zebrafish stripe reite[...]	GP00002123	csf1a A0A0B5JQ49	Morphology		Danio rerio zebrafish - (species)	Danio albolineatus pearl danio - (species) D	csf1a	Danio albolineatus pearl danio - (species)	Published - Accepted by Curator
CYC-like HaCYC2c	Flower morphology	Cis-regulatory, Insertion	Helianthus annuus common sunflower - (species) D	Intraspecific	Linkage Mapping	Chapman MA; Tang S; Draeger D ; et al. (2012) Genetic analysis of floral symmetry in Van Gogh's sunflowers reveals independent recruitment of CYCL[...]	GP00000193	CYC O49250	Morphology	999bp insertion in promoter	Helianthus annuus common sunflower - (species)	Helianthus annuus common sunflower - (species) D	CYC-like HaCYC2c	Helianthus annuus common sunflower - (species)	Published - Accepted by Curator
CYC-like RAY1/RAY2	Flower morphology	Gene Amplification, Complex Change	Senecio vulgaris (species)	Intraspecific	Linkage Mapping	Kim M; Cui ML; Cubas P ; et al. (2008) Regulatory genes control a key morphological and ecological trait transferred between species.	GP00000194	CYC O49250	Morphology	Gene gain by hybridization	Senecio vulgaris (species)	Senecio vulgaris (species)	CYC-like RAY1/RAY2	Senecio vulgaris (species)	Published - Accepted by Curator
Cycloidea (Lcyc)	Flower morphology	Cis-regulatory, Epigenetic Change	Linaria vulgaris common toadflax - (species) D	Intraspecific	Linkage Mapping	Cubas P; Vincent C; Coen E (1999) An epigenetic mutation responsible for natural variation in floral symmetry.	GP00000197	CYC O49250	Morphology	Stable methylation	Linaria vulgaris common toadflax - (species)	Linaria vulgaris common toadflax - (species) D	Cycloidea (Lcyc)	Linaria vulgaris common toadflax - (species)	Published - Accepted by Curator
CYP(T)	Flower morphology (style length)	Coding, Insertion N	Primula vulgaris (species) D	Intraspecific	Linkage Mapping	Li J; Cocker JM; Wright J ; et al. (2016) Genetic architecture and evolution of the S locus supergene in Primula vulgaris.	GP00001394	CYP734A1 O48786	Morphology	single base insertion in exon 2 introduces a disruptive premature stop codon N	Primula vulgaris (species)	Primula vulgaris (species) D	CYP(T)	Primula vulgaris (species)	Published - Accepted by Curator
CYP(T)	Flower morphology (style length)	Coding, SNP	Primula vulgaris (species) D	Intraspecific	Linkage Mapping	Li J; Cocker JM; Wright J ; et al. (2016) Genetic architecture and evolution of the S locus supergene in Primula vulgaris.	GP00001395	CYP734A1 O48786	Morphology	G>C p.Asp126His in exon 2	Primula vulgaris (species)	Primula vulgaris (species) D	CYP(T)	Primula vulgaris (species)	Published - Accepted by Curator
CYP19A1	Coloration (feathers)	Cis-regulatory, Insertion	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Li J; Davis BW; Jern P ; et al. (2019) Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering [...]	GP00002050	CYP19A1 P11511	Morphology	7524 bp insertion at the 5'end of CYP19A1 of an intact endogenous retrovirus (99% sequence identity to the avian leukosis virus ev-1 and ev-21 strains suggesting a recent integration) - The ERV 3'LTR contains a powerful transcriptional enhancer and core promoter with TATA box.	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	CYP19A1	Gallus gallus chicken - (species)	Published - Accepted by Curator
CYP2J19	Coloration (feathers)	Unknown, Unknown	Serinus canaria common canary - (species)	Interspecific	Linkage Mapping	Lopes RJ; Johnson JD; Toomey MB ; et al. (2016) Genetic Basis for Red Coloration in Birds.	GP00000201	CYP2J2 P51589	Morphology	unknown	Spinus cucullatus red siskin - (species)	Serinus canaria common canary - (species)	CYP2J19	Serinus canaria common canary - (species)	Published - Accepted by Curator
CYP2J19	Coloration (red vs yellow beak)	Gene Loss, Deletion N	Taeniopygia guttata zebra finch - (species) D	Domesticated	Linkage Mapping	Mundy NI; Stapley J; Bennison C ; et al. (2016) Red Carotenoid Coloration in the Zebra Finch Is Controlled by a Cytochrome P450 Gene Cluster.	GP00000202	CYP2J2 P51589	Morphology	13kb deletion including complete loss of the CYP2J19A copy and cis-regulatory effects on CYP2J19B N	Taeniopygia guttata zebra finch - (species)	Taeniopygia guttata zebra finch - (species) D	CYP2J19	Taeniopygia guttata zebra finch - (species)	Published - Accepted by Curator
CYP76AD1	Coloration	Coding, Insertion N	Beta vulgaris (species) D	Domesticated	Linkage Mapping	Hatlestad GJ; Sunnadeniya RM; Akhavan NA ; et al. (2012) The beet R locus encodes a new cytochrome P450 required for red betalain production.	GP00000210	CYP76AD1 I3PFJ5	Morphology	5bp insertion resulting in frameshift N	Beta vulgaris (species)	Beta vulgaris (species) D	CYP76AD1	Beta vulgaris (species)	Published - Accepted by Curator
Dat	Coloration (puparium)	Unknown, Unknown	Drosophila virilis (species)	Interspecific	Linkage Mapping	Ahmed-Braimah YH; Sweigart AL (2015) A single gene causes an interspecific difference in pigmentation in Drosophila.	GP00001403	AANAT1 Q94521	Morphology	unknown	Drosophila americana (species)	Drosophila virilis (species)	Dat	Drosophila virilis (species)	Published - Accepted by Curator
DC-STAMP domain containing 2 (DCST2)	Body size	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	van der Valk RJ; Kreiner-Møller E; Kooijman MN ; et al. (2015) A novel common variant in DCST2 is associated with length in early life and height in adulthood.	GP00001509	DCST2 Q5T1A1	Morphology	SNP rs905938 C allele associated with an increase in birth length but probably not the causative mutation	Homo sapiens human - (species)	Homo sapiens human - (species)	DC-STAMP domain containing 2 (DCST2)	Homo sapiens human - (species)	Published - Accepted by Curator
Dca (=smp-30)	Wing size	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Candidate Gene	Lee SF; Chen Y; Varan AK ; et al. (2011) Molecular basis of adaptive shift in body size in Drosophila melanogaster: functional and sequence a[...] 1 Additional References McKechnie SW; Blacket MJ; Song SV (2010) A clinally varying promoter polymorphism associated with adaptive variation in wing size in Drosophi[...]	GP00000214	smp-30 Q9VFG5	Morphology	Non-coding	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	Dca (=smp-30)	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
DCAR-032551	Carotenoid content	Coding, Insertion N	Daucus carota carrot - (species) D	Domesticated	Linkage Mapping	Iorizzo M; Ellison S; Senalik D ; et al. (2016) A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid[...]	GP00001568	DCAR_032551 A0A162A3G8	Morphology	A 212-nt insertion in exon 2 that creates a frameshift mutation N	Daucus carota carrot - (species)	Daucus carota carrot - (species) D	DCAR-032551	Daucus carota carrot - (species)	Published - Accepted by Curator
DDB1	Resistance to UV irradiation (sun exposure to skin)	Cis-regulatory, Complex Change	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Crawford NG; Kelly DE; Hansen MEB ; et al. (2017) Loci associated with skin pigmentation identified in African populations.	GP00001363	DDB1 Q16531	Morphology	most strongly associated SNPs are located in a region conserved across vertebrates flanked by TMEM138 and TMEM216 ~36 to 44 kb upstream of DDB1 and in high LD ; includes rs7948623 located 172 bp downstream of TMEM138 which shows enhancer activity in melanoma cells and interacts with the promoters of DDB1	Homo sapiens human - (species)	Homo sapiens human - (species) D	DDB1	Homo sapiens human - (species)	Published - Accepted by Curator
DEEPER ROOTING 1	Drought tolerance Root growth	Coding, Deletion N	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Uga Y; Sugimoto K; Ogawa S ; et al. (2013) Control of root system architecture by DEEPER ROOTING 1 increases rice yield under drought condition[...]	GP00000215	Dro1 Q69P88	Physiology Morphology	1bp deletion within exon 4 N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	DEEPER ROOTING 1	Oryza sativa rice - (species)	Published - Accepted by Curator
DEFICIENS	Fruit shape	Cis-regulatory, Epigenetic Change	Elaeis guineensis African oil palm - (species) D	Domesticated	Association Mapping	Ong-Abdullah M; Ordway JM; Jiang N ; et al. (2015) Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm.	GP00002100	AP3 P35632	Morphology	hypomethylation of the 3.2 kb oil palm Karma transposable element located within an intron of the DEFICIENS gene - this results in unmasking of a cryptic splice acceptor site and a premature termination signal and causes the mantled fruit phenotype- epigenetic derepression of a TE associated with a deleterious phenotype	Elaeis guineensis African oil palm - (species)	Elaeis guineensis African oil palm - (species) D	DEFICIENS	Elaeis guineensis African oil palm - (species)	Published - Accepted by Curator
Delta	Bristle number (abdomen)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Long AD; Lyman RF; Langley CH ; et al. (1998) Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...] 1 Additional References Genissel A; Pastinen T; Dowell A (2004) No evidence for an association between common nonsynonymous polymorphisms in delta and bristle numbe[...]	GP00000216	Dl P10041	Morphology	unknown; associated site in intron 5	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	Delta	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
Delta	Bristle number (thorax)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Long AD; Lyman RF; Langley CH ; et al. (1998) Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...] 1 Additional References Genissel A; Pastinen T; Dowell A (2004) No evidence for an association between common nonsynonymous polymorphisms in delta and bristle numbe[...]	GP00000217	Dl P10041	Morphology	unknown; associated site in intron 2	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	Delta	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
DEP1	Grain yield	Coding, Indel N	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Huang X; Qian Q; Liu Z ; et al. (2009) Natural variation at the DEP1 locus enhances grain yield in rice.	GP00000218	P0046G12.12-1 Q67UU9	Morphology	replacement of a 637bp stretch of the middle of exon5 by a 12-bp sequence creating a premature stop codon and consequently a loss of 230 residues from the C-terminus N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	DEP1	Oryza sativa rice - (species)	Published - Accepted by Curator
determinant of gall color (dgc)	Coloration (induced gall)	Cis-regulatory, Unknown	Hormaphis cornu (species)	Intraspecific	Association Mapping	Korgaonkar A; Han C; Lemire AL ; et al. (2021) A novel family of secreted insect proteins linked to plant gall development.	GP00002392		Morphology	almost complete silencing of dgc expression in salivary glands of aphids carrying the red gall allele	Hormaphis cornu (species)	Hormaphis cornu (species)	determinant of gall color (dgc)	Hormaphis cornu (species)	Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)	Coloration (flower)	Coding, Insertion N	Erythranthe lewisii (species) D	Intraspecific	Candidate Gene	Wu CA; Streisfeld MA; Nutter LI ; et al. (2013) The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]	GP00001457	DFRA P51102	Morphology	A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N	Erythranthe lewisii (species)	Erythranthe lewisii (species) D	Dihydroflavonol 4 reductase (MlDfr)	Erythranthe lewisii (species)	Published - Accepted by Curator
dihydroflavonol reductase (DFR)	Coloration (flowers)	Coding, Deletion	Iochroma calycinum (species) D	Intraspecific	Candidate Gene	Coburn RA; Griffin RH; Smith SD (2015) Genetic basis for a rare floral mutant in an Andean species of Solanaceae.	GP00000224	DFRA P51102	Morphology	33bp (11 a.a) deletion In coding sequence	Iochroma calycinum (species)	Iochroma calycinum (species) D	dihydroflavonol reductase (DFR)	Iochroma calycinum (species)	Published - Accepted by Curator
dihydroflavonol reductase (DFR)	Coloration (flowers)	Coding, SNP	Iochroma cyaneum (species)	Intraspecific	Linkage Mapping	Smith SD; Rausher MD (2011) Gene loss and parallel evolution contribute to species difference in flower color.	GP00000225	DFRA P51102	Morphology	12 candidate a.a. substitution in cluding one at a residue known to influence substrate specificity	Iochroma cyaneum (species)	Iochroma cyaneum (species)	dihydroflavonol reductase (DFR)	Iochroma cyaneum (species)	Published - Accepted by Curator
dihydroflavonol reductase (DFR)	Coloration (tuber skin)	Coding, Unknown	Solanum tuberosum potato - (species)	Domesticated	Linkage Mapping	De Jong WS; De Jong DM; De Jong H ; et al. (2003) An allele of dihydroflavonol 4-reductase associated with the ability to produce red anthocyanin pigm[...] 1 Additional References Zhang Y; Cheng S; De Jong D (2009) The potato R locus codes for dihydroflavonol 4-reductase.	GP00000226	DFRA P51102	Morphology	unknown; 10 a.a variable positions	Solanum tuberosum potato - (species)	Solanum tuberosum potato - (species)	dihydroflavonol reductase (DFR)	Solanum tuberosum potato - (species)	Published - Accepted by Curator
Distal-less	Coloration (wing)	Cis-regulatory, Unknown	Bicyclus anynana squinting bush brown - (species)	Domesticated	Linkage Mapping	Beldade P; Brakefield PM; Long AD (2002) Contribution of Distal-less to quantitative variation in butterfly eyespots.	GP00000229	Dll P20009	Morphology	unknown	Bicyclus anynana squinting bush brown - (species)	Bicyclus anynana squinting bush brown - (species)	Distal-less	Bicyclus anynana squinting bush brown - (species)	Published - Accepted by Curator
Dopa-decarboxylase	Bristle number (abdomen)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Mackay TF; Lyman RF (2005) Drosophila bristles and the nature of quantitative genetic variation.	GP00000232	Ddc P05031	Morphology	Promoter variation	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	Dopa-decarboxylase	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
Dopamine N-acetyltransferase (Dat)	Coloration (puparium)	Unknown, Unknown	Drosophila virilis (species) D	Interspecific	Linkage Mapping	Ahmed-Braimah YH; Sweigart AL (2015) A single gene causes an interspecific difference in pigmentation in Drosophila.	GP00000234	AANAT1 Q94521	Morphology	Not identified ; 11kb mapped interval including regulatory region and first exon	Drosophila americana (species)	Drosophila virilis (species) D	Dopamine N-acetyltransferase (Dat)	Drosophila virilis (species)	Published - Accepted by Curator
Doublesex	Bristle number (male sex comb tooth number)	Cis-regulatory, Complex Change	obscura group (species group)	Interspecific	Candidate Gene	Tanaka K; Barmina O; Sanders LE ; et al. (2011) Evolution of sex-specific traits through changes in HOX-dependent doublesex expression.	GP00000235	dsx P23023	Morphology	Acquisition of Scr binding sites in enhancer	Sophophora (subgenus)	obscura group (species group)	Doublesex	obscura group (species group)	Published - Accepted by Curator
Doublesex	Coloration (wing ; Batesian mimicry)	Unknown, Unknown	Papilio polytes common Mormon - (species)	Intraspecific	Linkage Mapping	Kunte K; Zhang W; Tenger-Trolander A ; et al. (2014) doublesex is a mimicry supergene. 2 Additional References Nishikawa H; Iijima T; Kajitani R (2015) A genetic mechanism for female-limited Batesian mimicry in Papilio butterfly. Zhang W; Westerman E; Nitzany E (2017) Tracing the origin and evolution of supergene mimicry in butterflies.	GP00001966	dsx P23023	Morphology	More than 1000 nucleotide substitutions differentiate mimetic and non-mimetic dsx alleles. The non-mimetic Cyrus Dsx protein folds much like other insects (such as Bombyx mori) whereas the mimetic polytes protein structure is highly divergent. Knockdown experiments show that female-specific dsx isoforms expressed from the inverted H allele (dsx(H)) induce mimetic coloration patterns and simultaneously repress non-mimetic patterns.	Papilio polytes common Mormon - (species)	Papilio polytes common Mormon - (species)	Doublesex	Papilio polytes common Mormon - (species)	Published - Accepted by Curator
Doublesex	Coloration (wing ; Batesian mimicry)	Unknown, Unknown	Papilio memnon (species)	Intraspecific	Candidate Gene	Iijima T; Kajitani R; Komata S ; et al. (2018) Parallel evolution of Batesian mimicry supergene in two Papilio butterflies, P. polytes and P. memno[...] 1 Additional References Komata S; Lin CP; Iijima T (2016) Identification of doublesex alleles associated with the female-limited Batesian mimicry polymorphism[...]	GP00001967	dsx P23023	Morphology	A locus containing three genes (dsx; Nach-like and UXT) displays dimorphic sequences strictly associated with the mimetic/nonmimetic phenotypes. Expression of dox; UXT but not Nach-like showed differences correlated with phenotype in female hind wings.	Papilio memnon (species)	Papilio memnon (species)	Doublesex	Papilio memnon (species)	Published - Accepted by Curator
Doublesex (or neighbouring gene prospero)	Wing shape (sex-specific)	Cis-regulatory, Unknown	Nasonia giraulti (species)	Interspecific	Linkage Mapping	Loehlin DW; Oliveira DC; Edwards R ; et al. (2010) Non-coding changes cause sex-specific wing size differences between closely related species of Nason[...]	GP00000236	dsx P23023	Morphology	various	Nasonia vitripennis jewel wasp - (species)	Nasonia giraulti (species)	Doublesex (or neighbouring gene prospero)	Nasonia giraulti (species)	Published - Accepted by Curator
Dvl2	Organ size (tail)	Coding, Deletion N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Mansour TA; Lucot K; Konopelski SE ; et al. (2018) Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 [...]	GP00002110	DVL2 O14641	Morphology	single base deletion found on CFA 5(g.32195043_32195044del) that is homozygous in the three screw tail breeds - predicted to lead to a frameshift mutation and cause a premature stop codon that truncates the translated protein by 23 amino acids (p.Pro684LeufsX26) - 26 altered amino acids are predicted to be present in the highly conserved C-terminus of the mutant protein. N	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	Dvl2	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
dwarf-8 (d8)	Plant size (dwarfism)	Coding, Deletion N	Zea mays (species) D	Domesticated	Linkage Mapping	Peng J; Richards DE; Hartley NM ; et al. (1999) 'Green revolution' genes encode mutant gibberellin response modulators. 2 Additional References Camus-Kulandaivelu L; Veyrieras JB; Madur D (2006) Maize adaptation to temperate climate: relationship between population structure and polymorphism in[...] Thornsberry JM; Goodman MM; Doebley J (2001) Dwarf8 polymorphisms associate with variation in flowering time.	GP00000241	D8 Q9ST48	Morphology	330bp deletion to V84 N	Zea mays (species)	Zea mays (species) D	dwarf-8 (d8)	Zea mays (species)	Published - Accepted by Curator
DYM	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000242	DYM Q7RTS9	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	DYM	Homo sapiens human - (species)	Published - Accepted by Curator
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]	Plant growth (hypocotyl elongation ; temperature-dependent)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Raschke A; Ibañez C; Ullrich KK ; et al. (2015) Natural variants of ELF3 affect thermomorphogenesis by transcriptionally modulating PIF4-dependent a[...]	GP00001245	ELF3 O82804	Morphology	A362V	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
ebony	Coloration (abdomen)	Cis-regulatory, Unknown	Drosophila novamexicana (species) D	Intraspecific	Linkage Mapping	Wittkopp PJ; Stewart EE; Arnold LL ; et al. (2009) Intraspecific polymorphism to interspecific divergence: genetics of pigmentation in Drosophila. 1 Additional References Lamb Abigail M; Wang Zinan; Simmer Patricia (2020 ) ebony affects pigmentation divergence and cuticular hydrocarbons in Drosophila americana and D. nova[...]	GP00000248	e O76858	Morphology	Not identified	Drosophila americana (species)	Drosophila novamexicana (species) D	ebony	Drosophila novamexicana (species)	Published - Accepted by Curator
ebony	Coloration (thorax)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Takahashi A; Takahashi K; Ueda R ; et al. (2007) Natural variation of ebony gene controlling thoracic pigmentation in Drosophila melanogaster. 1 Additional References Endler L; Gibert JM; Nolte V (2018) Pleiotropic effects of regulatory variation in tan result in correlation of two pigmentation traits [...]	GP00000249	e O76858	Morphology	Not identified	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	ebony	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
ebony	Coloration (posterior abdomen)	Cis-regulatory, Unknown	Drosophila auraria (species) D	Intraspecific	Candidate Gene	Johnson WC; Ordway AJ; Watada M ; et al. (2015) Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]	GP00000250	e O76858	Morphology	Inactivation of a conserved silencer resulting in gain-of-expression; the increase in ebony expression in the light strain occurred primarily through mutations affecting the ebony male-specific silencer element	Drosophila auraria (species)	Drosophila auraria (species) D	ebony	Drosophila auraria (species)	Published - Accepted by Curator
ebony	Coloration (posterior abdomen)	Cis-regulatory, Unknown	Drosophila serrata (species) D	Interspecific	Candidate Gene	Johnson WC; Ordway AJ; Watada M ; et al. (2015) Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]	GP00000251	e O76858	Morphology	loss of the ebony male-specific silencer function - increased expression of ebony	Drosophila jambulina (species)	Drosophila serrata (species) D	ebony	Drosophila serrata (species)	Published - Accepted by Curator
ebony	Coloration (posterior abdomen)	Cis-regulatory, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Takahashi A; Takano-Shimizu T (2011) Divergent enhancer haplotype of ebony on inversion In(3R)Payne associated with pigmentation variatio[...]	GP00000252	e O76858	Morphology	17 nucleotide sites and 2 indels in complete association with the thoracic trident pigmentation intensity in a 13kb region	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	ebony	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
ebony	Coloration (posterior abdomen)	5 Mutations: Cis-regulatory SNP	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Rebeiz M; Pool JE; Kassner VA ; et al. (2009) Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.	GP00000253	e O76858	Morphology	5 mutations	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	ebony	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
ebony	Coloration (male-specific)	Cis-regulatory, SNP	Drosophila malerkotliana (species)	Intraspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001544	e O76858	Morphology	5 changes including 4 SNP and 1bp indel in the first intron	Drosophila malerkotliana (species)	Drosophila malerkotliana (species)	ebony	Drosophila malerkotliana (species)	Published - Accepted by Curator
ebony	Coloration (male-specific)	Cis-regulatory, Unknown	Drosophila pseudoananassae (species)	Intraspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001545	e O76858	Morphology	unknown	Drosophila pseudoananassae (species)	Drosophila pseudoananassae (species)	ebony	Drosophila pseudoananassae (species)	Published - Accepted by Curator
ebony	Coloration (male-specific)	Unknown, Unknown	Drosophila merina (species)	Interspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001546	e O76858	Morphology	unknown	Drosophila ercepeae (species)	Drosophila merina (species)	ebony	Drosophila merina (species)	Published - Accepted by Curator
ebony	Coloration (male-specific)	Unknown, Unknown	Drosophila bipectinata (species)	Interspecific	Linkage Mapping	Signor SA; Liu Y; Rebeiz M ; et al. (2016) Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.	GP00001547	e O76858	Morphology	unknown	Drosophila parabipectinata (species)	Drosophila bipectinata (species)	ebony	Drosophila bipectinata (species)	Published - Accepted by Curator
ebony	Coloration (abdomen; male)	Cis-regulatory, Insertion	Drosophila santomea (species) D	Interspecific	Linkage Mapping	Liu Y; Ramos-Womack M; Han C ; et al. (2019) Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.	GP00002024	e O76858	Morphology	insertion of a partial 481 bp fragment related to a transposable element of the helitron class - maybe other causing mutations as well at this ebony locus (including one fixed amino acid change whose phenotypic effect has not been investigated) - increased expression associated with lighter pigmentation	Drosophila yakuba (species)	Drosophila santomea (species) D	ebony	Drosophila santomea (species)	Published - Accepted by Curator
Ectodysplasin (EDA)	Dermal bone (loss of armor plates)	Cis-regulatory, Unknown	Gasterosteus aculeatus three-spined stickleback - (species) D	Interspecific	Linkage Mapping	Colosimo PF; Hosemann KE; Balabhadra S ; et al. (2005) Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles. 2 Additional References Jones FC; Grabherr MG; Chan YF (2012) The genomic basis of adaptive evolution in threespine sticklebacks. O'Brown NM; Summers BR; Jones FC (2015) A recurrent regulatory change underlying altered expression and Wnt response of the stickleback armo[...]	GP00000254	Eda O54693	Morphology	large haplotype- includes a T-> G regulatory change that affect expression based on differential responsiveness to Wnt signaling	Gasterosteus aculeatus three-spined stickleback - (species)	Gasterosteus aculeatus three-spined stickleback - (species) D	Ectodysplasin (EDA)	Gasterosteus aculeatus three-spined stickleback - (species)	Published - Accepted by Curator
Ectodysplasin (EDA)	Scales (loss) Femoral glands (absent) Tooth number	Coding, Insertion	Pogona vitticeps central bearded dragon - (species) D	Intraspecific	Candidate Gene	Di-Poï N; Milinkovitch MC (2016) The anatomical placode in reptile scale morphogenesis indicates shared ancestry among skin appendage[...]	GP00002040	Eda O54693	Morphology Morphology Morphology	5′688–bp insertion of a transposon of the LTR-Gypsy family which generates a new splice donor site (gt) 42 bases upstream of the wild-type donor site; thus generating a 14–amino acid deletion in the corresponding transcript	Pogona vitticeps central bearded dragon - (species)	Pogona vitticeps central bearded dragon - (species) D	Ectodysplasin (EDA)	Pogona vitticeps central bearded dragon - (species)	Published - Accepted by Curator
EDAR	Hair thickness Eccrine gland density Ear traits = lobe size / lobe attachment / helix rolling / ear protrusion Tooth morphology (shovel-shaped incisors)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Fujimoto A; Kimura R; Ohashi J ; et al. (2008) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...] 4 Additional References Kamberov YG; Wang S; Tan J (2013) Modeling recent human evolution in mice by expression of a selected EDAR variant. Adhikari K; Reales G; Smith AJ (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology. Park JH; Yamaguchi T; Watanabe C (2012) Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. Kimura R; Yamaguchi T; Takeda M (2009) A common variation in EDAR is a genetic determinant of shovel-shaped incisors.	GP00000256	EDAR Q9UNE0	Morphology Morphology Morphology Morphology	p.Val370Ala; functionally validated in mouse	Homo sapiens human - (species)	Homo sapiens human - (species) D	EDAR	Homo sapiens human - (species)	Published - Accepted by Curator
EDAR	Scales (reduced)	Coding, Deletion N	Sinocyclocheilus anshuiensis (species) D Sinocyclocheilus grahami (species) D Sinocyclocheilus rhinocerous (species) D	Interspecific	Candidate Gene	Yang J; Chen X; Bai J ; et al. (2016) The Sinocyclocheilus cavefish genome provides insights into cave adaptation.	GP00002359	EDAR Q9UNE0	Morphology	Several deletions in the EDAR1 coding region. N	Danio rerio zebrafish - (species)	Sinocyclocheilus anshuiensis (species) D Sinocyclocheilus grahami (species) D Sinocyclocheilus rhinocerous (species) D	EDAR	Sinocyclocheilus anshuiensis (species) Sinocyclocheilus grahami (species) Sinocyclocheilus rhinocerous (species)	Published - Accepted by Curator
EDN3	Coloration (hyperpigmentation)	Gene Amplification, Complex Change	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Molin AM; Rubin CJ ; et al. (2011) A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in [...] 3 Additional References Johansson AM; Nelson RM (2015) Characterization of genetic diversity and gene mapping in two Swedish local chicken breeds. Han R; Yang P; Tian Y (2014) Identification and functional characterization of copy number variations in diverse chicken breeds. Dharmayanthi AB; Terai Y; Sulandari S (2017) The origin and evolution of fibromelanosis in domesticated chickens: Genomic comparison of Indonesia[...]	GP00000258	EDN3 P14138	Morphology	Large duplication	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	EDN3	Gallus gallus chicken - (species)	Published - Accepted by Curator
EDN3	Coloration (coat) Coloration (eyes) Hearing (loss)	Unknown, Unknown	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Fan R; Gu Z; Guang X ; et al. (2020) Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca.	GP00002182	EDN3 P14138	Morphology Morphology Physiology	Introgression from alpacas to lamas and clear correlation wit phenotype but no information on the mutation(s)	Vicugna vicugna vicugna - (species)	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D	EDN3	Lama glama llama - (species) Vicugna pacos alpaca - (species)	Published - Accepted by Curator
EDN3	Coloration	Cis-regulatory, Unknown	Ambystoma mexicanum axolotl - (species) D	Domesticated	Candidate Gene	Woodcock MR; Vaughn-Wolfe J; Elias A ; et al. (2017) Identification of Mutant Genes and Introgressed Tiger Salamander DNA in the Laboratory Axolotl, Amby[...]	GP00002377	EDN3 P14138	Morphology		Ambystoma mexicanum axolotl - (species)	Ambystoma mexicanum axolotl - (species) D	EDN3	Ambystoma mexicanum axolotl - (species)	Published - Accepted by Curator
edn3b	Coloration (reduced number of stripes)	Cis-regulatory, Unknown	Danio nigrofasciatus dwarf danio - (species)	Interspecific	Candidate Gene	Spiewak JE; Bain EJ; Liu J ; et al. (2018) Evolution of Endothelin signaling and diversification of adult pigment pattern in Danio fishes.	GP00002124	edn3b E9QFS0	Morphology	pigment pattern differences between these species are clearly polygenic, and it seems likely that additional loci, of the endothelin pathway or other pathways, will be identified as contributing to attenuated stripes and interstripes of D. nigrofasciatus compared to D. rerio.	Danio rerio zebrafish - (species)	Danio nigrofasciatus dwarf danio - (species)	edn3b	Danio nigrofasciatus dwarf danio - (species)	Published - Accepted by Curator
EDNRA	Coloration (coat ; white-spotting)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Association Mapping	Menzi F; Keller I; Reber I ; et al. (2016) Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation[...]	GP00002170	Ednra Q61614	Morphology	1 Mb copy number variant (CNV) harboring 5 genes including EDNRA ; The duplicated EDNRA copies contain a missense variant (p.Tyr129His) predicted to increase the affinity of the encoded mutant receptor for endothelin 3. Menzi et al. proposed a hypothesis whereby ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely leads to an absence of melanocytes in the non-pigmented body areas of Boer goats (thanks to OMIA for the summary)	Capra hircus goat - (species)	Capra hircus goat - (species) D	EDNRA	Capra hircus goat - (species)	Published - Accepted by Curator
EGFR	Wing shape (length)	Unknown, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Dworkin I; Palsson A; Gibson G (2005) Replication of an Egfr-wing shape association in a wild-caught cohort of Drosophila melanogaster. 1 Additional References Palsson A; Dodgson J; Dworkin I (2005) Tests for the replication of an association between Egfr and natural variation in Drosophila melanog[...]	GP00000259	Egfr P04412	Morphology	unknown	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	EGFR	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
EGFR	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001537	EGFR P00533	Morphology	A>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	EGFR	Homo sapiens human - (species)	Published - Accepted by Curator
EIF2AK3	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000264	EIF2AK3 Q9NZJ5	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2AK3	Homo sapiens human - (species)	Published - Accepted by Curator
EIF2S2	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001359	EIF2S2 P20042	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2S2	Homo sapiens human - (species)	Published - Accepted by Curator
Endothelin receptor B	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metallinos DL; Bowling AT; Rine J (1998) A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...] 2 Additional References Santschi EM; Purdy AK; Valberg SJ (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Yang GC; Croaker D; Zhang AL (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndr[...]	GP00000269	Ednrb P48302	Morphology	Ile118Lys	Equus caballus horse - (species)	Equus caballus horse - (species) D	Endothelin receptor B	Equus caballus horse - (species)	Published - Accepted by Curator
Endothelin receptor B	Coloration (feathers ; white-spotting)	Coding, SNP	Coturnix japonica Japanese quail - (species) D	Domesticated	Linkage Mapping	Miwa M; Inoue-Murayama M; Aoki H ; et al. (2007) Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese qua[...]	GP00000270	Ednrb P48302	Morphology	c.995G>A p.R332H	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species) D	Endothelin receptor B	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Kinoshita K; Akiyama T; Mizutani M ; et al. (2014) Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]	GP00001360	EDNRB2 W8VUK4	Morphology	c.1008G>T p.Cys244Phe	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Endothelin receptor B2	Gallus gallus chicken - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Kinoshita K; Akiyama T; Mizutani M ; et al. (2014) Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]	GP00001361	EDNRB2 W8VUK4	Morphology	c.G1272A p.Arg332His	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Endothelin receptor B2	Gallus gallus chicken - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers ; white-spotting)	Coding, SNP	Anas platyrhynchos mallard - (species) D	Domesticated	Candidate Gene	Li L; Li D; Liu L ; et al. (2015) Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas[...]	GP00002378	EDNRB2 W8VUK4	Morphology		Anas platyrhynchos mallard - (species)	Anas platyrhynchos mallard - (species) D	Endothelin receptor B2	Anas platyrhynchos mallard - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers ; white-spotting)	Cis-regulatory, Unknown	Anas platyrhynchos mallard - (species) D	Domesticated	Association Mapping	Xi Y; Xu Q; Huang Q ; et al. (2021) Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in[...]	GP00002383	EDNRB2 W8VUK4	Morphology	"The GWAS results identified a 198 kb (Chr4: 10,149,651 bp to 10,348,068 bp) genetic region that was significantly associated with the black spot phenotype. The conditional GWAS and linkage disequilibrium (LD) analysis further narrowed the ultimate candidate region to 167 kb (Chr4: 10,180,939 bp to 10,348,068 bp). A key gene regulating melanoblast migration and differentiation, EDNRB2 (Endothelin B receptor-like), was found in the candidate region and having significant mRNA expression level changes in embryonic duck skin tissue with different spot sizes. The significant SNPs (single nucleotide polymorphisms) associated with the EDNRB2 gene were annotated, and two mutations (Chr4: 10,180,939 T > C and Chr4: 10,190,671 A > T) were found to result in the loss of binding sites for two trans-factors, XBP1 and cMYB. The phenotypic effect of these two mutations suggested that they can regulate the size of black spots in a dose-dependent manner, and Chr4: 10,180,939 T > C was the major allele locus."	Anas platyrhynchos mallard - (species)	Anas platyrhynchos mallard - (species) D	Endothelin receptor B2	Anas platyrhynchos mallard - (species)	Published - Accepted by Curator
engrailed	Coloration (wing ; Batesian mimicry)	Cis-regulatory, Unknown	Papilio dardanus African swallowtail butterfly - (species) D	Intraspecific	Linkage Mapping	Timmermans MJTN; Srivathsan A; Collins S ; et al. (2020) Mimicry diversification in Papilio dardanus via a genomic inversion in the regulatory region of engr[...]	GP00002428	en P02836	Morphology	Association with many nucleotide changes in a cis-regulatory region of engrailed. The diverged region exhibits a discrete chromosomal inversion of 40 kb relative to the ancestral orientation that is associated with the cenea morph, but not with the bottom-recessive hippocoonides morph or with non-mimetic allopatric populations.	Papilio dardanus African swallowtail butterfly - (species)	Papilio dardanus African swallowtail butterfly - (species) D	engrailed	Papilio dardanus African swallowtail butterfly - (species)	Published - Accepted by Curator
EOMES (eomesodermin)	Bird head comb (reduced)	Gene Amplification, Insertion	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Harun-Or-Rashid M; Bagherpoor AJ ; et al. (2015) A genomic duplication is associated with ectopic eomesodermin expression in the embryonic chicken co[...]	GP00000271	Eomes O54839	Morphology	a 20 Kb tandem duplication containing several conserved putative regulatory elements located 200 Kb upstream of the eomesodermin gene	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	EOMES (eomesodermin)	Gallus gallus chicken - (species)	Published - Accepted by Curator
EphB2	Feathers (crest morphology)	Coding, SNP	Columba livia rock pigeon - (species) D	Domesticated	Association Mapping	Shapiro MD; Kronenberg Z; Li C ; et al. (2013) Genomic diversity and evolution of the head crest in the rock pigeon. 1 Additional References Vickrey AI; Domyan ET; Horvath MP (2015) Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]	GP00000275	EPHB2 P28693	Morphology	Arg758Cys (C>T) p.R758C	Columba livia rock pigeon - (species)	Columba livia rock pigeon - (species) D	EphB2	Columba livia rock pigeon - (species)	Published - Accepted by Curator
EphB2	Feathers (crest morphology)	Coding, SNP	Streptopelia risoria ringneck dove - (species) D	Domesticated	Candidate Gene	Vickrey AI; Domyan ET; Horvath MP ; et al. (2015) Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]	GP00000276	EPHB2 P28693	Morphology	Gly636Arg (G>A)	Streptopelia risoria ringneck dove - (species)	Streptopelia risoria ringneck dove - (species) D	EphB2	Streptopelia risoria ringneck dove - (species)	Published - Accepted by Curator
ephrin-a4	Coloration (scales)	Unknown, Unknown	Tropheops sp. 'red cheek' (species)	Interspecific	Linkage Mapping	Albertson RC; Powder KE; Hu Y ; et al. (2014) Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]	GP00001420	EFNA4 P52798	Morphology	unknown	Labeotropheus fuelleborni blue mbuna - (species)	Tropheops sp. 'red cheek' (species)	ephrin-a4	Tropheops sp. 'red cheek' (species)	Published - Accepted by Curator
ERECTA	Plant architecture Leaf architecture Transpiration	Unknown, Unknown	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Masle J; Gilmore SR; Farquhar GD (2005) The ERECTA gene regulates plant transpiration efficiency in Arabidopsis. 2 Additional References El-Lithy ME; Reymond M; Stich B (2010) Relation among plant growth, carbohydrates and flowering time in the Arabidopsis Landsberg erecta x [...] Huang X; Paulo MJ; Boer M (2011) Analysis of natural allelic variation in Arabidopsis using a multiparent recombinant inbred line pop[...]	GP00000280	ERECTA Q42371	Morphology Morphology Physiology	unknown	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	ERECTA	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
ETC2	Trichome density (leaf)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Hilscher J; Schlötterer C; Hauser MT (2009) A single amino acid replacement in ETC2 shapes trichome patterning in natural Arabidopsis population[...]	GP00001237	ETC2 Q84RD1	Morphology	K19E	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	ETC2	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
fasciated	Fruit size Fruit architecture	Cis-regulatory, Unknown	Solanum lycopersicum tomato - (species)	Domesticated	Linkage Mapping	Cong B; Barrero LS; Tanksley SD (2008) Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during t[...]	GP00000305	fasciated B2YHV8	Morphology Morphology	Possibly 7-bp and 6- to 8-kb insertion in the first intron	Solanum pennellii (species)	Solanum lycopersicum tomato - (species)	fasciated	Solanum lycopersicum tomato - (species)	Published - Accepted by Curator
FASCIATED EAR2	Grain yield (kernel row number)	Unknown, Unknown	Zea mays (species)	Domesticated	Linkage Mapping	Bommert P; Nagasawa NS; Jackson D (2013) Quantitative variation in maize kernel row number is controlled by the FASCIATED EAR2 locus.	GP00000306	FEA2 Q940E8	Morphology	Not identified	Zea mays (species)	Zea mays (species)	FASCIATED EAR2	Zea mays (species)	Published - Accepted by Curator
Fezf2	Cerebral cortex layered organization	Cis-regulatory, Complex Change	Mammalia mammals - (class) D	Intergeneric or Higher	Candidate Gene	Shim S; Kwan KY; Li M ; et al. (2012) Cis-regulatory control of corticospinal system development and evolution.	GP00000307	Fezf2 Q9ESP5	Morphology	Acquisition of SOX binding sites in enhancer E4	Amniota amniotes - (no rank)	Mammalia mammals - (class) D	Fezf2	Mammalia mammals - (class)	Published - Accepted by Curator
FGF20	Organ loss (feathers ; scales)	Coding, SNP N	Gallus gallus chicken - (species) D	Domesticated	Association Mapping	Wells KL; Hadad Y; Ben-Avraham D ; et al. (2012) Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of feath[...]	GP00002171	FGF20 Q9NP95	Morphology	g.62878803A>T c.535A>T p.R179* N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	FGF20	Gallus gallus chicken - (species)	Published - Accepted by Curator
FGF3; FGF4; FGF19; ORAOV1	Coloration (coat; dog Ridgeback phenotype)	Gene Amplification, Complex Change	Canis lupus familiaris dog - (subspecies) D	Domesticated	Linkage Mapping	Salmon Hillbertz NH; Isaksson M; Karlsson EK ; et al. (2007) Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in[...]	GP00000308	FGF4 J9P3I7	Morphology	Gene duplication	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF3; FGF4; FGF19; ORAOV1	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF4 retrogene	Limb size	Unknown, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Parker HG; VonHoldt BM; Quignon P ; et al. (2009) An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.	GP00000309	FGF4 J9P3I7	Morphology	Gene retroposition : 5kb insertion containing a FGF4 retrogene; 25Mb away from the complete (original) FGF4 gene	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF4 retrogene	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Cadieu E; Neff MW; Quignon P ; et al. (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00000310	Fgf5 P15656	Morphology	Cys95Phe	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length (length)	Coding, Deletion N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007) Mutations within the FGF5 gene are associated with hair length in cats. 1 Additional References Kehler JS; David VA; Schäffer AA (2007 Sep-Oct) Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired p[...]	GP00000311	Fgf5 P15656	Morphology	c.474delT resulting in frameshift N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	FGF5	Felis catus domestic cat - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, Deletion N	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Legrand R; Tiret L; Abitbol M (2014) Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.	GP00001369	Fgf5 P15656	Morphology	c.433_434delAT frameshift deletion leading to a stop codon at position 159 N	Equus asinus ass - (species)	Equus asinus ass - (species) D	FGF5	Equus asinus ass - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP N	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Legrand R; Tiret L; Abitbol M (2014) Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.	GP00001370	Fgf5 P15656	Morphology	c.245G>A p.W82* nonsense mutation leading to stop codon at position 82 N	Equus asinus ass - (species)	Equus asinus ass - (species) D	FGF5	Equus asinus ass - (species)	Published - Accepted by Curator
FGF5	Hair length (length)	Coding, Insertion N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007) Mutations within the FGF5 gene are associated with hair length in cats. 1 Additional References Kehler JS; David VA; Schäffer AA (2007 Sep-Oct) Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired p[...]	GP00002172	Fgf5 P15656	Morphology	c.ins356T resulting in frameshift N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	FGF5	Felis catus domestic cat - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, Deletion N	Mesocricetus auratus golden hamster - (species) D	Domesticated	Candidate Gene	Yoshizawa Y; Wada K; Shimoi G ; et al. (2015) A 1-bp deletion in Fgf5 causes male-dominant long hair in the Syrian hamster.	GP00002173	Fgf5 P15656	Morphology	c.546delG p.Arg184GlyfsX6 N	Mesocricetus auratus golden hamster - (species)	Mesocricetus auratus golden hamster - (species) D	FGF5	Mesocricetus auratus golden hamster - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dierks C; Mömke S; Philipp U ; et al. (2013) Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. 1 Additional References Cadieu E; Neff MW; Quignon P (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00002174	Fgf5 P15656	Morphology	g.4528639C>T c.578C>T p.A193V	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dierks C; Mömke S; Philipp U ; et al. (2013) Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. 1 Additional References Cadieu E; Neff MW; Quignon P (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00002175	Fgf5 P15656	Morphology	g.8193T>A splice site	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length	Coding, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dierks C; Mömke S; Philipp U ; et al. (2013) Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. 1 Additional References Cadieu E; Neff MW; Quignon P (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00002176	Fgf5 P15656	Morphology	c.559_560dupGG p.R188Afs*73	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length	Coding, Deletion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dierks C; Mömke S; Philipp U ; et al. (2013) Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. 1 Additional References Cadieu E; Neff MW; Quignon P (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00002177	Fgf5 P15656	Morphology	c.556_571del16 p.A186Tfs*69	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP N	Cavia porcellus domestic guinea pig - (species) D	Domesticated	Candidate Gene	Yu F; Liu Z; Jiao S ; et al. (2018) A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea[...]	GP00002178	Fgf5 P15656	Morphology	c.403C>T p.Arg135* N	Cavia porcellus domestic guinea pig - (species)	Cavia porcellus domestic guinea pig - (species) D	FGF5	Cavia porcellus domestic guinea pig - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, Indel N	Lama glama llama - (species) D	Domesticated	Candidate Gene	Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017) Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]	GP00002179	Fgf5 P15656	Morphology	a single base deletion (c.348delA) + a 12-bp insertion (c.351_352insCATATAACATAG) N	Lama guanicoe guanaco - (species)	Lama glama llama - (species) D	FGF5	Lama glama llama - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP N	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017) Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...] 2 Additional References Pallotti S; Pediconi D; Subramanian D (2018) Evidence of post-transcriptional readthrough regulation in FGF5 gene of alpaca. Fan R; Gu Z; Guang X (2020) Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca.	GP00002180	Fgf5 P15656	Morphology	transition C>T at position 499 downstream of the ATG codon with transcriptional readthrough ; difference in post-transcriptional readthrough may underlie the different fleece types of the alpaca suri and huacaya breeds ; derived allele was introgressed from lamas to alpacas N	Lama guanicoe guanaco - (species)	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D	FGF5	Lama glama llama - (species) Vicugna pacos alpaca - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, Deletion N	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Hébert JM; Rosenquist T; Götz J ; et al. (1994) FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations. 1 Additional References Sundberg JP; Rourk MH; Boggess D (1997) Angora mouse mutation: altered hair cycle, follicular dystrophy, phenotypic maintenance of skin graf[...]	GP00002441	Fgf5 P15656	Morphology	Deletion which extends at least 2kb upstream of the Fgf5 translational start site and terminates at the end of the first exon or beginning of the first intron. N	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	FGF5	Mus musculus house mouse - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, Deletion N	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Mizuno S; Iijima S; Okano T ; et al. (2011) Retrotransposon-mediated Fgf5(go-Utr) mutant mice with long pelage hair.	GP00002442	Fgf5 P15656	Morphology	Deletion of a 9.3-kb region in the Fgf5 gene including exon 3 and its 5' and 3' flanking sequences. The genomic deletion site also shows insertion of a 498-bp early transposon element long terminal repeat. N	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	FGF5	Mus musculus house mouse - (species)	Published - Accepted by Curator
FGF5	Hair length	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Housley DJ; Venta PJ (2006) The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability.	GP00002443	Fgf5 P15656	Morphology	Presence of a duplication in a relatively non-conserved region of the gene and a missense mutation resulting in the substitution of Phe for Cys in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair; eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds.	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Fgfr1a1	Scales (loss)	Coding, Deletion N	Cyprinus carpio common carp - (species) D	Domesticated	Candidate Gene	Rohner N; Bercsényi M; Orbán L ; et al. (2009) Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.	GP00000312	fgfr1a Q90Z00	Morphology	deletion of 310 bp N	Cyprinus carpio common carp - (species)	Cyprinus carpio common carp - (species) D	Fgfr1a1	Cyprinus carpio common carp - (species)	Published - Accepted by Curator
Fgfr1a1	Scales (loss)	Coding, SNP	Cyprinus carpio common carp - (species) D	Domesticated	Candidate Gene	Rohner N; Bercsényi M; Orbán L ; et al. (2009) Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.	GP00000313	fgfr1a Q90Z00	Morphology	Glu664Lys	Cyprinus carpio common carp - (species)	Cyprinus carpio common carp - (species) D	Fgfr1a1	Cyprinus carpio common carp - (species)	Published - Accepted by Curator
FGFR2	Hair thickness	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Fujimoto A; Nishida N; Kimura R ; et al. (2009) FGFR2 is associated with hair thickness in Asian populations.	GP00000314	FGFR2 P21802	Morphology	Unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	FGFR2	Homo sapiens human - (species)	Published - Accepted by Curator
FGFR3	Body size (bone length)	Coding, SNP	Ovis aries sheep - (species) D	Domesticated	Linkage Mapping	Beever JE; Smit MA; Meyers SN ; et al. (2006) A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodyspla[...] 1 Additional References Smith LB; Dally MR; Sainz RD (2006) Enhanced skeletal growth of sheep heterozygous for an inactivated fibroblast growth factor receptor [...]	GP00002184	FGFR3 P22607	Morphology	c.1719T>A p.V700E	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	FGFR3	Ovis aries sheep - (species)	Published - Accepted by Curator
fiz	Body size	3 Mutations: Cis-regulatory SNP	Drosophila melanogaster fruit fly - (species) D	Intraspecific	Candidate Gene	Glaser-Schmitt A; Parsch J (2018) Functional characterization of adaptive variation within a cis-regulatory element influencing Drosop[...]	GP00002017	fiz Q9VY04	Morphology	3 mutations	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species) D	fiz	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers; pubescence; seeds)	Coding, Deletion N	Glycine soja (species) D	Intraspecific	Candidate Gene	Guo Y; Qiu LJ (2013) Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]	GP00000315	CYP75B1 Q9SD85	Morphology	-1bp at +973 resulting in premature stop codon N	Glycine max soybean - (species)	Glycine soja (species) D	Flavonoid 3'-hydroxylase (F3'H)	Glycine soja (species)	Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers; pubescence; seeds)	Coding, Deletion N	Glycine soja (species) D	Intraspecific	Candidate Gene	Guo Y; Qiu LJ (2013) Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]	GP00000316	CYP75B1 Q9SD85	Morphology	-1bp at +1164 resulting in premature stop codon N	Glycine max soybean - (species)	Glycine soja (species) D	Flavonoid 3'-hydroxylase (F3'H)	Glycine soja (species)	Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers; pubescence; seeds)	Coding, Indel	Glycine soja (species)	Intraspecific	Candidate Gene	Guo Y; Qiu LJ (2013) Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]	GP00000317	CYP75B1 Q9SD85	Morphology	a single base insertion of an adenine at position 965 as well as a single base deletion of adenine at position 973 resulting in N322K and Q324T - exact causing mutation(s) unknown	Glycine max soybean - (species)	Glycine soja (species)	Flavonoid 3'-hydroxylase (F3'H)	Glycine soja (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers)	Cis-regulatory, Insertion	Glycine max soybean - (species) D	Domesticated	Candidate Gene	Zabala G; Vodkin LO (2005) The wp mutation of Glycine max carries a gene-fragment-rich transposon of the CACTA superfamily.	GP00000318	CYP75B1 Q9SD85	Morphology	Transposon insertion in intron 2	Glycine max soybean - (species)	Glycine max soybean - (species) D	flavonoid 3'-hydroxylase (F3'H)	Glycine max soybean - (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers)	Coding, Insertion N	Ipomoea purpurea common morning-glory - (species) D	Domesticated	Candidate Gene	Zufall RA; Rausher MD (2003 Nov-Dec) The genetic basis of a flower color polymorphism in the common morning glory (Ipomoea purpurea). 3 Additional References Hoshino A; Morita Y; Choi JD (2003) Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...] Zufall RA; Rausher MD (2004) Genetic changes associated with floral adaptation restrict future evolutionary potential. Des Marais DL; Rausher MD (2010) Parallel evolution at multiple levels in the origin of hummingbird pollinated flowers in Ipomoea.	GP00000319	CYP75B1 Q9SD85	Morphology	insertion of the 0.55-kb DNA transposable element Tip201 belonging to the Ac/Ds superfamily. No excision of Tip201 from the F3'H gene could be detected. Both splicing and polyadenylation patterns of the F3'H transcripts were affected by the Tip201 integration. N	Ipomoea purpurea common morning-glory - (species)	Ipomoea purpurea common morning-glory - (species) D	flavonoid 3'-hydroxylase (F3'H)	Ipomoea purpurea common morning-glory - (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers)	Unknown, Unknown	Petunia x hybrida (species)	Domesticated	Candidate Gene	Brugliera F; Barri-Rewell G; Holton TA ; et al. (1999) Isolation and characterization of a flavonoid 3'-hydroxylase cDNA clone corresponding to the Ht1 loc[...]	GP00000320	CYP75B1 Q9SD85	Morphology	Not identified	Petunia x hybrida (species)	Petunia x hybrida (species)	flavonoid 3'-hydroxylase (F3'H)	Petunia x hybrida (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (seed; pods)	Coding, Deletion N	Glycine max soybean - (species) D	Domesticated	Linkage Mapping	Toda K; Yang D; Yamanaka N ; et al. (2002) A single-base deletion in soybean flavonoid 3'-hydroxylase gene is associated with gray pubescence c[...] 1 Additional References Zabala G; Vodkin L (2003) Cloning of the pleiotropic T locus in soybean and two recessive alleles that differentially affect s[...]	GP00000321	CYP75B1 Q9SD85	Morphology	1bp deletion resulting in frameshift N	Glycine max soybean - (species)	Glycine max soybean - (species) D	flavonoid 3'-hydroxylase (F3'H)	Glycine max soybean - (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers)	Coding, SNP N	Ipomoea nil Japanese morning glory - (species) D	Domesticated	Candidate Gene	Hoshino A; Morita Y; Choi JD ; et al. (2003) Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]	GP00002087	CYP75B1 Q9SD85	Morphology	nonsense mutation caused by a single C to T base transition generating the stop codon TGA. N	Ipomoea nil Japanese morning glory - (species)	Ipomoea nil Japanese morning glory - (species) D	flavonoid 3'-hydroxylase (F3'H)	Ipomoea nil Japanese morning glory - (species)	Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)	Coloration (flowers)	Coding, Insertion N	Ipomoea tricolor (species) D	Domesticated	Candidate Gene	Hoshino A; Morita Y; Choi JD ; et al. (2003) Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]	GP00002088	CYP75B1 Q9SD85	Morphology	a single T insertion generating the stop codon TAG. The accumulation of the F3'H transcripts is drastically reduced by the nonsense-mediated RNA decay. N	Ipomoea tricolor (species)	Ipomoea tricolor (species) D	flavonoid 3'-hydroxylase (F3'H)	Ipomoea tricolor (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers; pubescence; seeds)	Coding, Insertion N	Glycine soja (species) D	Intraspecific	Candidate Gene	Guo Y; Qiu LJ (2013) Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]	GP00000322	CYP75A2 P37120	Morphology	53bp insertion at +1352 N	Glycine max soybean - (species)	Glycine soja (species) D	flavonoid 3';5'-hydroxylase (F3'5'H)	Glycine soja (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers)	Coding, SNP	Glycine soja (species)	Intraspecific	Linkage Mapping	Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010) A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]	GP00000323	CYP75A2 P37120	Morphology	V210M (uncertain); no expression level differences detected	Glycine soja (species)	Glycine soja (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Glycine soja (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers)	Gene Loss, Complex Change N	Iochroma cyaneum (species)	Interspecific	Linkage Mapping	Smith SD; Rausher MD (2011) Gene loss and parallel evolution contribute to species difference in flower color.	GP00000324	CYP75A2 P37120	Morphology	Large deletion N	Iochroma cyaneum (species)	Iochroma cyaneum (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Iochroma cyaneum (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers)	Cis-regulatory, Unknown	Phlox drummondii (species)	Intraspecific	Linkage Mapping	Hopkins R; Rausher MD (2011) Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii.	GP00000325	CYP75A2 P37120	Morphology	unknown	Phlox drummondii (species)	Phlox drummondii (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Phlox drummondii (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers)	Coding, SNP	Pisum sativum pea - (species)	Domesticated	Candidate Gene	Moreau C; Ambrose MJ; Turner L ; et al. (2012) The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.	GP00000326	CYP75A2 P37120	Morphology	G111E	Pisum sativum pea - (species)	Pisum sativum pea - (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Pisum sativum pea - (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (flowers)	Coding, Deletion N	Pisum sativum pea - (species) D	Domesticated	Linkage Mapping	Moreau C; Ambrose MJ; Turner L ; et al. (2012) The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.	GP00000327	CYP75A2 P37120	Morphology	23bp deletion reuslting in frameshift and truncated protein N	Pisum sativum pea - (species)	Pisum sativum pea - (species) D	flavonoid 3';5'-hydroxylase (F3'5'H)	Pisum sativum pea - (species)	Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)	Coloration (tuber skin)	Cis-regulatory, Unknown	Solanum tuberosum potato - (species)	Domesticated	Linkage Mapping	Jung CS; Griffiths HM; De Jong DM ; et al. (2005) The potato P locus codes for flavonoid 3',5'-hydroxylase.	GP00000328	CYP75A2 P37120	Morphology	unknown	Solanum tuberosum potato - (species)	Solanum tuberosum potato - (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Solanum tuberosum potato - (species)	Published - Accepted by Curator
follistatin	Limb morphology (wing dimorphism) Flight behavior (wing dimorphism)	Gene Amplification, Insertion	Acyrthosiphon pisum pea aphid - (species) D	Intraspecific	Linkage Mapping	Li B; Bickel RD; Parker BJ ; et al. (2020) A large genomic insertion containing a duplicated follistatin gene is linked to the pea aphid male w[...]	GP00002138	Fs Q86NV3	Morphology Behavior	the api allele from winged males is a 120kb insertion that includes a copy of the follistatin gene	Acyrthosiphon pisum pea aphid - (species)	Acyrthosiphon pisum pea aphid - (species) D	follistatin	Acyrthosiphon pisum pea aphid - (species)	Published - Accepted by Curator	February 9, 2021 22:00
FOXI3	Hair (hypotrichosis)	Coding, Insertion N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Drögemüller C; Karlsson EK; Hytönen MK ; et al. (2008) A mutation in hairless dogs implicates FOXI3 in ectodermal development.	GP00000351	FOXI3 B5RHS5	Morphology	Frameshift; 7-bp duplication within exon 1 N	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FOXI3	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
FOXL2	Horns absence Somatic sex change	Cis-regulatory, Deletion	Capra hircus goat - (species) D	Domesticated	Linkage Mapping	Pailhoux E; Vigier B; Chaffaux S ; et al. (2001) A 11.7-kb deletion triggers intersexuality and polledness in goats. 2 Additional References Kocer A; Pinheiro I; Pannetier M (2008) R-spondin1 and FOXL2 act into two distinct cellular types during goat ovarian differentiation. Boulanger L; Pannetier M; Gall L (2014) FOXL2 is a female sex-determining gene in the goat.	GP00000352	FOXL2 Q8MIP2	Morphology Physiology	11.7 kbp deletion of mainly repetitive sequences ; Alters transcription of two flanking genes; but FOXL2 in particular is proposed as the main determinant of the phenotype	Capra hircus goat - (species)	Capra hircus goat - (species) D	FOXL2	Capra hircus goat - (species)	Published - Accepted by Curator
foxo	Body size (wing) Starvation resistance	Unknown, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Candidate Gene	Betancourt NJ; Rajpurohit S; Durmaz E ; et al. (2021) Allelic polymorphism at foxo contributes to local adaptation in Drosophila melanogaster. 1 Additional References Durmaz E; Rajpurohit S; Betancourt N (2019) A clinal polymorphism in the insulin signaling transcription factor foxo contributes to life-history[...]	GP00002661	foxo Q95V55	Morphology Morphology; Physiology		Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	foxo	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
FRIZZLED8	Neocortex development	Cis-regulatory, Unknown	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Boyd JL; Skove SL; Rouanet JP ; et al. (2015) Human-chimpanzee differences in a FZD8 enhancer alter cell-cycle dynamics in the developing neocorte[...]	GP00001443	FZD8 Q9H461	Morphology	10 mutations fixed on the human branch in the Hs-HARE5 genomic locus resulting in enhancer activity in developing neocortex	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	FRIZZLED8	Homo sapiens human - (species)	Published - Accepted by Curator
FST/MOCS2	coloration (head feathers)	Cis-regulatory, Unknown	Erythrura gouldiae Gouldian finch - (species)	Intraspecific	Association Mapping	Toomey MB; Marques CI; Andrade P ; et al. (2018) A non-coding region near Follistatin controls head colour polymorphism in the Gouldian finch. 1 Additional References Kim KW; Jackson BC; Zhang H (2019) Genetics and evidence for balancing selection of a sex-linked colour polymorphism in a songbird.	GP00002125		Morphology	candidate locus is a small (approx. 70 kb) non-coding region mapping to the Z chromosome near the FST and MOCS2	Erythrura gouldiae Gouldian finch - (species)	Erythrura gouldiae Gouldian finch - (species)	FST/MOCS2	Erythrura gouldiae Gouldian finch - (species)	Published - Accepted by Curator
FW2.2	Fruit size	Cis-regulatory, Unknown	Solanum lycopersicum tomato - (species)	Domesticated	Linkage Mapping	Frary A; Nesbitt TC; Grandillo S ; et al. (2000) fw2.2: a quantitative trait locus key to the evolution of tomato fruit size. 1 Additional References Nesbitt TC; Tanksley SD (2002) Comparative sequencing in the genus Lycopersicon. Implications for the evolution of fruit size in th[...]	GP00000383	ORFX Q9LKV7	Morphology	Not identified	Lycopersicon (subgenus)	Solanum lycopersicum tomato - (species)	FW2.2	Solanum lycopersicum tomato - (species)	Published - Accepted by Curator
GADD45G	Brain development	Cis-regulatory, Deletion	Pan troglodytes chimpanzee - (species) D	Interspecific	Association Mapping	McLean CY; Reno PL; Pollen AA ; et al. (2011) Human-specific loss of regulatory DNA and the evolution of human-specific traits.	GP00000384	GADD45G O95257	Morphology	Enhancer loss	Homo sapiens human - (species)	Pan troglodytes chimpanzee - (species) D	GADD45G	Pan troglodytes chimpanzee - (species)	Published - Accepted by Curator
GCNF (NR6A1)	Vertebrae number	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Mikawa S; Morozumi T; Shimanuki S ; et al. (2007) Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]	GP00000386	Nr6a1 Q64249	Morphology	Pro192Leu	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	GCNF (NR6A1)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
GDF5	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sanna S; Jackson AU; Nagaraja R ; et al. (2008) Common variants in the GDF5-UQCC region are associated with variation in human height. 1 Additional References Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000387	GDF5 P43026	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GDF5	Homo sapiens human - (species)	Published - Accepted by Curator
GDF6	Dermal bone size (armor plates)	Cis-regulatory, Unknown	Gasterosteus aculeatus three-spined stickleback - (species) D	Intraspecific	Linkage Mapping	Indjeian VB; Kingman GA; Jones FC ; et al. (2016) Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.	GP00000388	GDF6 Q6KF10	Morphology	gain of a flank enhancer activity involving a complex repeat region; 1.2kb L2 LINE insertion; 18 small indels and 89 SNPs - the LINE insertion is required but not sufficient, to produce increased flank expression	Gasterosteus aculeatus three-spined stickleback - (species)	Gasterosteus aculeatus three-spined stickleback - (species) D	GDF6	Gasterosteus aculeatus three-spined stickleback - (species)	Published - Accepted by Curator
GDF6	Limb morphology (hindlimb;skeleton)	Cis-regulatory, Deletion	Homininae (subfamily) D	Intergeneric or Higher	Candidate Gene	Indjeian VB; Kingman GA; Jones FC ; et al. (2016) Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.	GP00000389	GDF6 Q6KF10	Morphology	Loss of a limb specific enhancer, the deletion is 5.6 kb	Homo sapiens human - (species)	Homininae (subfamily) D	GDF6	Homininae (subfamily)	Published - Accepted by Curator
GDF7	Feathers (loss)	Cis-regulatory, Insertion	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Mou C; Pitel F; Gourichon D ; et al. (2011) Cryptic patterning of avian skin confers a developmental facility for loss of neck feathering.	GP00002185	Gdf7 P43029	Morphology	a large insertion approximately 260kb downstream from the BMP12 gene (now known as GFD7) increasing the expression of this gene in embryonic skin	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	GDF7	Gallus gallus chicken - (species)	Published - Accepted by Curator
GH	Body size (dwarfism)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	McCormack BL; Chase CC; Olson TA ; et al. (2009) A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]	GP00002037	GH1 P01241	Morphology	g.48768780C>T c.593C>T p.T198M	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	GH	Bos taurus cattle - (species)	Published - Accepted by Curator
Ghd7	Flowering time Inflorescence morphology	Unknown, Unknown	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Xue W; Xing Y; Weng X ; et al. (2008) Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice.	GP00000393	GHD7 E5RQA1	Physiology Morphology	unknown	Oryza sativa rice - (species)	Oryza sativa rice - (species)	Ghd7	Oryza sativa rice - (species)	Published - Accepted by Curator
GHSR	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000394	GHSR Q92847	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GHSR	Homo sapiens human - (species)	Published - Accepted by Curator
GIBBERELLIC ACID REQUIRING 1 (GA1)	Flower morphology	Unknown, Unknown	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Brock MT; Kover PX; Weinig C (2012) Natural variation in GA1 associates with floral morphology in Arabidopsis thaliana.	GP00000395	GA1 Q38802	Morphology	unknown	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	GIBBERELLIC ACID REQUIRING 1 (GA1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GL3.1	Grain size	2 Mutations: Coding SNP	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Qi P; Lin YS; Song XJ ; et al. (2012) The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]	GP00000397	GL3 Q9FN69	Morphology	2 mutations	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GL3.1	Oryza sativa rice - (species)	Published - Accepted by Curator
GL7	Grain size Grain quality	Gene Amplification, Indel	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Wang Y; Xiong G; Hu J ; et al. (2015) Copy number variation at the GL7 locus contributes to grain size diversity in rice.	GP00001541	LNG1 Q9LF24	Morphology Physiology	tandem duplication of a 17.1 kb segment containing GL7. Both copies encode exactly the same polypeptide and exhibit similar transcript levels leading to upregulation	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GL7	Oryza sativa rice - (species)	Published - Accepted by Curator
GLABROUS1	Trichome (leaves)	Unknown, Unknown	Arabidopsis (genus)	Intraspecific	Candidate Gene	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Kivimäki M; Kärkkäinen K; Gaudeul M (2007) Gene, phenotype and function: GLABROUS1 and resistance to herbivory in natural populations of Arabid[...]	GP00000398	GL1 P27900	Morphology	unknown	Arabidopsis (genus)	Arabidopsis (genus)	GLABROUS1	Arabidopsis (genus)	Published - Accepted by Curator
GLABROUS1	Trichome density (leaf)	Gene Loss, Deletion N	Arabidopsis thaliana thale cress - (species)	Intraspecific	Candidate Gene	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	GP00001238	GL1 P27900	Morphology	gene loss: -4.7KB at position -948bp N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	GLABROUS1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GLABROUS1	Trichome density (leaf)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Candidate Gene	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	GP00001239	GL1 P27900	Morphology	S92F	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	GLABROUS1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GLABROUS1	Trichome density (leaf)	Coding, Insertion N	Arabidopsis thaliana thale cress - (species)	Intraspecific	Candidate Gene	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	GP00001240	GL1 P27900	Morphology	+1bp at position 352 causing premature stop N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	GLABROUS1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GLABROUS1	Trichome density (leaf)	Coding, Deletion N	Arabidopsis thaliana thale cress - (species) D	Intraspecific	Candidate Gene	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	GP00001241	GL1 P27900	Morphology	-1bp at position 203 causing premature stop N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	GLABROUS1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GLABROUS1	Trichome density (leaf)	Unknown, Unknown	Arabidopsis thaliana thale cress - (species)	Intraspecific	Association Mapping	Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...] 1 Additional References Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	GP00001242	GL1 P27900	Morphology	high frequency pattern of polymorphism identified in the third exon and 3' flank	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	GLABROUS1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
GLO(T)	Flower morphology (anther elevation)	Coding, Insertion N	Primula vulgaris (species) D	Intraspecific	Linkage Mapping	Li J; Cocker JM; Wright J ; et al. (2016) Genetic architecture and evolution of the S locus supergene in Primula vulgaris.	GP00001393	GLO Q03378	Morphology	A 2.5 kb retrotransposon in exon 2 severely truncates the protein N	Primula vulgaris (species)	Primula vulgaris (species) D	GLO(T)	Primula vulgaris (species)	Published - Accepted by Curator
goldentouch	Coloration	Cis-regulatory, Insertion	Amphilophus citrinellus Midas cichlid - (species)	Intraspecific	Association Mapping	Kratochwil CF; Kautt AF; Nater A ; et al. (2022) An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid[...]	GP00002362		Morphology	"Using a new haplotype-resolved long-read assembly we discover an 8.2 kb, transposon-derived inverted repeat in an intron of an undescribed gene, which we term goldentouch in reference to the Greek myth of King Midas. The gene goldentouch is differentially expressed between morphs, presumably due to structural implications of inverted repeats in both DNA and/or RNA (cruciform and hairpin formation). The near-perfect association of the insertion with the phenotype across independent populations suggests that it likely underlies this trans-specific, stable polymorphism."	Amphilophus citrinellus Midas cichlid - (species)	Amphilophus citrinellus Midas cichlid - (species)	goldentouch	Amphilophus citrinellus Midas cichlid - (species)	Published - Accepted by Curator
GPR133	Body size (height; male-limited)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tönjes A; Koriath M; Schleinitz D ; et al. (2009) Genetic variation in GPR133 is associated with height: genome wide association study in the self-con[...]	GP00000412	ADGRD1 Q6QNK2	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GPR133	Homo sapiens human - (species)	Published - Accepted by Curator
GPR22	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Batcher K; Varney S; Affolter VK ; et al. (2022) An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.	GP00002389	GPR22 Q99680	Morphology	A SNNL1 retrocopy element is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. It is likely disrupting regulation of the CPR22 gene, resulting in higher gene expression and atypical expression in the skin.	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	GPR22	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
GRAIN INCOMPLETE FILLING 1	Grain weight	Cis-regulatory, Unknown	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Wang E; Wang J; Zhu X ; et al. (2008) Control of rice grain-filling and yield by a gene with a potential signature of domestication.	GP00000413	CIN2 Q0JDC5	Morphology	unknown	Oryza rufipogon (species)	Oryza sativa rice - (species)	GRAIN INCOMPLETE FILLING 1	Oryza sativa rice - (species)	Published - Accepted by Curator
GRAMD3	Coloration (skin)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Association Mapping	Xu J; Lin S; Gao X ; et al. (2017) Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.	GP00002391	GRAMD3 F1NDM3	Morphology	No coding mutation in GRAMD3. The expression of GRAMD3 gene in the dermis tissues of the shank was significantly (P = 0.010738 < 0.05) higher in 350-day-old Gushi chickens characterized by the dermal shank pigmentation than in one-day-old Gushi chickens. Variation in the flanking region of GRAMD3 probably leads to the abnormal expression of GRAMD3.	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	GRAMD3	Gallus gallus chicken - (species)	Published - Accepted by Curator
grassy tillers1	Plant architecture (number of ears)	Cis-regulatory, Unknown	Zea mays (species)	Domesticated	Linkage Mapping	Wills DM; Whipple CJ; Takuno S ; et al. (2013) From many, one: genetic control of prolificacy during maize domestication.	GP00000414	gt1 G1AQA5	Morphology	unknown but narrow 2.7kb interval	Zea mays (species)	Zea mays (species)	grassy tillers1	Zea mays (species)	Published - Accepted by Curator
Growth Hormone Receptor (GHR)	Body size (height)	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Association Mapping	Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015) Height-reducing variants and selection for short stature in Sardinia.	GP00000415	GHR P10912	Morphology	Arg61* N	Homo sapiens human - (species)	Homo sapiens human - (species)	Growth Hormone Receptor (GHR)	Homo sapiens human - (species)	Published - Accepted by Curator
growth hormone receptor (GHR)	Body size (weight)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001475	GHR Q9TU69	Morphology	G>A in exon 5 p.E191K in extracellular domain	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	growth hormone receptor (GHR)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
growth hormone receptor (GHR)	Body size (weight)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001476	GHR Q9TU69	Morphology	C>T in exon 5 p.P177L in extracellular domain	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	growth hormone receptor (GHR)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Growth Hormone Receptor (GHR)	Body size (dwarfism)	Coding, Deletion N	Gallus gallus chicken - (species) D	Domesticated	Association Mapping	Agarwal SK; Cogburn LA; Burnside J (1994) Dysfunctional growth hormone receptor in a strain of sex-linked dwarf chicken: evidence for a mutati[...]	GP00002189	GHR P10912	Morphology	deletion of 1773 bp in the 3' end of the coding region N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Growth Hormone Receptor (GHR)	Gallus gallus chicken - (species)	Published - Accepted by Curator
GS3	Grain size	Coding, SNP N	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Fan C; Xing Y; Mao H ; et al. (2006) GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...] 1 Additional References Huang X; Wei X; Sang T (2010) Genome-wide association studies of 14 agronomic traits in rice landraces.	GP00000417	GS3 C6L686	Morphology	C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GS3	Oryza sativa rice - (species)	Published - Accepted by Curator
GS5	Grain size	Cis-regulatory, Unknown	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Li Y; Fan C; Xing Y ; et al. (2011) Natural variation in GS5 plays an important role in regulating grain size and yield in rice.	GP00000418	GS5 B8AYD6	Morphology	Promoter variation	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GS5	Oryza sativa rice - (species)	Published - Accepted by Curator
GSS (glutathione synthetase)	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001362	GSS P48637	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GSS (glutathione synthetase)	Homo sapiens human - (species)	Published - Accepted by Curator
GW2	Grain size	Coding, Deletion N	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Song XJ; Huang W; Shi M ; et al. (2007) A QTL for rice grain width and weight encodes a previously unknown RING-type E3 ubiquitin ligase.	GP00000424	GW2 A4GWX9	Morphology	1bp deletion resulting in a premature stop codon in exon 4; the premature stop codon led to truncation of 310 amino acid residues N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	GW2	Oryza sativa rice - (species)	Published - Accepted by Curator
GW2	Grain size	Coding, Insertion N	Triticum aestivum bread wheat - (species) D	Domesticated	Linkage Mapping	Yang Z; Bai Z; Li X ; et al. (2012) SNP identification and allelic-specific PCR markers development for TaGW2, a gene linked to wheat ke[...]	GP00000425	GW2 A4GWX9	Morphology	1bp insertion resulting in premature stop codon N	Triticum aestivum bread wheat - (species)	Triticum aestivum bread wheat - (species) D	GW2	Triticum aestivum bread wheat - (species)	Published - Accepted by Curator
GW7	Grain shape Grain quality	Cis-regulatory, Unknown	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Wang S; Li S; Liu Q ; et al. (2015) The OsSPL16-GW7 regulatory module determines grain shape and simultaneously improves rice yield and [...]	GP00001540	TON1A Q9FQ25	Morphology Physiology	18 SNPs and 9 indels observed in the promoter region and exon 1 and in particular an 11-bp deletion and 18-bp insertion near GTAC motifs which are normally binded by OsSPL16 repressor (reduced binding increasing transcription)	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GW7	Oryza sativa rice - (species)	Published - Accepted by Curator
hairy (h)	Bristle number (thorax)	Unknown, Unknown	Drosophila melanogaster fruit fly - (species)	Intraspecific	Linkage Mapping	Robin C; Lyman RF; Long AD ; et al. (2002) hairy: A quantitative trait locus for drosophila sensory bristle number.	GP00000436	h P14003	Morphology	unknown; complex promoter indel variation shows high-association	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	hairy (h)	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
HAO1	Fertility (egg production) Bird head morphology (male comb)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Johnsson M; Gustafson I; Rubin CJ ; et al. (2012) A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during d[...] 1 Additional References Johnsson M; Rubin CJ; Höglund A (2014) The role of pleiotropy and linkage in genes affecting a sexual ornament and bone allocation in the c[...]	GP00000437	HAO1 E1BRR7	Physiology Morphology	unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	HAO1	Gallus gallus chicken - (species)	Published - Accepted by Curator
HAS2	Wrinkled skin (Shar-Pei dogs)	Cis-regulatory, Unknown	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Akey JM; Ruhe AL; Akey DT ; et al. (2010) Tracking footprints of artificial selection in the dog genome.	GP00000438	HAS2 J9PB16	Morphology	unknown	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	HAS2	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
herfst	Coloration (wing; seasonal)	Cis-regulatory, Unknown	Junonia coenia buckeye - (species) D	Experimental Evolution	Association Mapping	van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020) Genomic architecture of a genetically assimilated seasonal color pattern.	GP00002422	rk Q7KTA0	Morphology	No variation in coding region. Strong association with cis-regulatory SNP. CRISPR mutant clones for the herfst gene display light tan scales.	Junonia coenia buckeye - (species)	Junonia coenia buckeye - (species) D	herfst	Junonia coenia buckeye - (species)	Published - Accepted by Curator
HES7	Organ size (tail; short)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Lyons LA; Creighton EK; Alhaddad H ; et al. (2016) Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentatio[...] 1 Additional References Xu X; Sun X; Hu XS (2016) Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian [...]	GP00002190	HES7 Q9BYE0	Morphology	g.2819475A>G c.5A>G p.V2A	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	HES7	Felis catus domestic cat - (species)	Published - Accepted by Curator
HMGA2	Body size	Unknown, Unknown	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Akey JM; Ruhe AL; Akey DT ; et al. (2010) Tracking footprints of artificial selection in the dog genome. 1 Additional References Webster MT; Kamgari N; Perloski M (2015) Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds.	GP00000484	HMGA2 P52926	Morphology	unknown	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	HMGA2	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
HMGA2	Body size	Unknown, Unknown	Equus caballus horse - (species)	Domesticated	Association Mapping	Makvandi-Nejad S; Hoffman GE; Allen JJ ; et al. (2012) Four loci explain 83% of size variation in the horse.	GP00000485	HMGA2 P52926	Morphology	unknown	Equus caballus horse - (species)	Equus caballus horse - (species)	HMGA2	Equus caballus horse - (species)	Published - Accepted by Curator
HMGA2	Body size (height; bone mineral density)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Weedon MN; Lettre G; Freathy RM ; et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. 3 Additional References Yang TL; Guo Y; Zhang LS (2010) HMGA2 is confirmed to be associated with human adult height. Kuipers A; Zhang Y; Cauley JA (2009) Association of a high mobility group gene (HMGA2) variant with bone mineral density. Horikoshi M; Yaghootkar H; Mook-Kanamori DO (2013) New loci associated with birth weight identify genetic links between intrauterine growth[...]	GP00000486	HMGA2 P52926	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	HMGA2	Homo sapiens human - (species)	Published - Accepted by Curator
HMGA2	Ear size	Unknown, Unknown	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Li P; Xiao S; Wei N ; et al. (2012) Fine mapping of a QTL for ear size on porcine chromosome 5 and identification of high mobility group[...]	GP00000487	HMGA2 P52926	Morphology	unknown	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	HMGA2	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
HMGA2	Body size (dwarfism) Cranio-facial morphology	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Association Mapping	Carneiro M; Hu D; Archer J ; et al. (2017) Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]	GP00001675	HMGA2 P52926	Morphology Morphology	deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	HMGA2	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
HMX1	Organ size (ear; cropped)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Koch CT; Bruggmann R; Tetens J ; et al. (2013) A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.	GP00002191	HMX1 Q9NP08	Morphology	76bp duplication in an ultra-conserved enhancer located 148 kb apart of the coding region of HMX1	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	HMX1	Bos taurus cattle - (species)	Published - Accepted by Curator
Hooded	Flower morphology	Cis-regulatory, Insertion	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Müller KJ; Romano N; Gerstner O ; et al. (1995) The barley Hooded mutation caused by a duplication in a homeobox gene intron.	GP00000488	KNOX3 Q43484	Morphology	305bp duplication in intron 4	Hordeum vulgare (species)	Hordeum vulgare (species) D	Hooded	Hordeum vulgare (species)	Published - Accepted by Curator
Hox gene cluster	Body plan (number of segments)	Gene Loss, Deletion N	Hypsibius dujardini (species) D Paramacrobiotus richtersi (species) D Milnesium tardigradum (species) D	Intergeneric or Higher	Candidate Gene	Smith FW; Boothby TC; Giovannini I ; et al. (2016) The Compact Body Plan of Tardigrades Evolved by the Loss of a Large Body Region.	GP00001946	Antp P02833	Morphology	The three genes Antp Ubx AbdA are missing in the genome sequences of the three tardigrades. This loss is ancient so difficult to evaluate whether the three genes were lost due to a single mutational event or due to successive mutations. The Hox cluster is disorganized in the H. dujardini genome. N	Drosophila melanogaster fruit fly - (species)	Hypsibius dujardini (species) D Paramacrobiotus richtersi (species) D Milnesium tardigradum (species) D	Hox gene cluster	Hypsibius dujardini (species) Paramacrobiotus richtersi (species) Milnesium tardigradum (species)	Published - Accepted by Curator
Hoxb8	Feather (bird face)	Cis-regulatory, Insertion	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Guo Y; Gu X; Sheng Z ; et al. (2016) A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muf[...]	GP00002193	Hoxb8 P09632	Morphology	Complex Structural Variation with 3 CNVs including a 14.8kb copy of hoxb7 + hoxb8 ; results in ectopic (unrepressed) expression of hoxb8 in feathers especially in the facial region	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Hoxb8	Gallus gallus chicken - (species)	Published - Accepted by Curator
HOXC8 - uncertain	Feathers (crest morphology)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Association Mapping	Wang Y; Gao Y; Imsland F ; et al. (2012) The crest phenotype in chicken is associated with ectopic expression of HOXC8 in cranial skin.	GP00000489	HOXC8 Q9YH13	Morphology	unknown	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	HOXC8 - uncertain	Gallus gallus chicken - (species)	Published - Accepted by Curator
Hps4	Coloration (albinism)	Coding, Deletion N	Ictalurus punctatus channel catfish - (species) D	Intraspecific	Association Mapping	Li Y; Geng X; Bao L ; et al. (2017) A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in [...]	GP00002122	Hps4 Q99KG7	Morphology	A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene N	Ictalurus punctatus channel catfish - (species)	Ictalurus punctatus channel catfish - (species) D	Hps4	Ictalurus punctatus channel catfish - (species)	Published - Accepted by Curator
HUA2	Flowering time Shoot morphology	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Wang Q; Sajja U; Rosloski S ; et al. (2007) HUA2 caused natural variation in shoot morphology of A. thaliana.	GP00000491	HUA2 Q9XER9	Physiology Morphology	K525E N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	HUA2	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
HUA2	Flowering time Coloration (temperature-dependent)	Coding, Unknown N	Arabidopsis thaliana thale cress - (species) D	Intraspecific	Linkage Mapping	Ilk N; Ding J; Ihnatowicz A ; et al. (2015) Natural variation for anthocyanin accumulation under high-light and low-temperature stress is attrib[...] 1 Additional References Doyle MR; Bizzell CM; Keller MR (2005) HUA2 is required for the expression of floral repressors in Arabidopsis thaliana.	GP00001230	HUA2 Q9XER9	Physiology Morphology	Premature stop codon resulting in truncation of 290 C-terminal amino-acids (hua-2-5 Ler allele) N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	HUA2	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
HvbHLH1	Coloration	Coding, Deletion N	Hordeum vulgare (species) D	Domesticated	Association Mapping	Cockram J; White J; Zuluaga DL ; et al. (2010) Genome-wide association mapping to candidate polymorphism resolution in the unsequenced barley genom[...]	GP00000493	bHLH1 E5FCX3	Morphology	16bp deletion resulting in premature stop codon N	Hordeum vulgare (species)	Hordeum vulgare (species) D	HvbHLH1	Hordeum vulgare (species)	Published - Accepted by Curator
IGF2BP1	Body size (weight)	Cis-regulatory, Unknown	Anas platyrhynchos mallard - (species) D	Domesticated	Linkage Mapping	Zhou Z; Li M; Cheng H ; et al. (2018) An intercross population study reveals genes associated with body size and plumage color in ducks.	GP00002128	IGF2BP1 O42254	Morphology	We found that the phenotypic values of body size related traits together with IGF2BP1 expression levels were successfully fine-mapped of the causal variation in an ~100-kb region (chr28: 4,413,785-4,513,671) located on the 148 kb upstream of the IGF2BP1 gene	Anas platyrhynchos mallard - (species)	Anas platyrhynchos mallard - (species) D	IGF2BP1	Anas platyrhynchos mallard - (species)	Published - Accepted by Curator
IIL1	Plant growth (pleiotropic growth abnormalities)	Cis-regulatory, Insertion	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Sureshkumar S; Todesco M; Schneeberger K ; et al. (2009) A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. 1 Additional References Tabib A; Vishwanathan S; Seleznev A (2016) A Polynucleotide Repeat Expansion Causing Temperature-Sensitivity Persists in Wild Irish Accessions [...]	GP00001229	IIL1 Q94AR8	Morphology	expansion of a GAA/TTC trinucleotide repeat in the third intron	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	IIL1	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
Indian hedgehog (IHH)	Limb size (legs)	Gene Loss, Deletion N	Gallus gallus chicken - (species) D	Domesticated	Association Mapping	Jin S; Zhu F; Wang Y ; et al. (2016) Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken.	GP00002194	IHH Q98938	Morphology	11,896 bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Indian hedgehog (IHH)	Gallus gallus chicken - (species)	Published - Accepted by Curator
InR	Fertility Developmental time Body size Stress response Lifespan	Coding, Indel	Drosophila melanogaster fruit fly - (species)	Intraspecific	Candidate Gene	Paaby AB; Bergland AO; Behrman EL ; et al. (2014) A highly pleiotropic amino acid polymorphism in the Drosophila insulin receptor contributes to life-[...] 1 Additional References Paaby AB; Blacket MJ; Hoffmann AA (2010) Identification of a candidate adaptive polymorphism for Drosophila life history by parallel independ[...]	GP00002663	InR P09208	Morphology Morphology; Physiology Physiology Physiology Physiology	Deletion of 9 nucleotides in the first exon. The two alleles differ by presence/absence of the three amino acids QHH.	Drosophila melanogaster fruit fly - (species)	Drosophila melanogaster fruit fly - (species)	InR	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
Insulin-like growth factor 1 (IGF1)	Body size	Cis-regulatory, Unknown	Canis lupus familiaris dog - (subspecies)	Domesticated	Association Mapping	Sutter NB; Bustamante CD; Chase K ; et al. (2007) A single IGF1 allele is a major determinant of small size in dogs. 1 Additional References Rimbault M; Beale HC; Schoenebeck JJ (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00000501	Igf1 P05017	Morphology	Not identified / several haplotypes	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies)	Insulin-like growth factor 1 (IGF1)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Insulin-like growth factor 2 (IGF2)	Muscular mass Fat deposition Heart size	Cis-regulatory, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Van Laere AS; Nguyen M; Braunschweig M ; et al. (2003) A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.	GP00000502	Igf2 P09535	Morphology Physiology Morphology	1bp change	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	Insulin-like growth factor 2 (IGF2)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000503	IGF1R P08069	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Insulin-like growth factor receptor 1 (IGF1R)	Homo sapiens human - (species)	Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)	Body size (weight)	Coding, SNP	Homo sapiens human - (species) D	Domesticated	Candidate Gene	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001479	IGF1R P08069	Morphology	G>A p.R204H in exon 2	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	Insulin-like growth factor receptor 1 (IGF1R)	Homo sapiens human - (species)	Published - Accepted by Curator
IRF2BP2	Hair type (woolly)	Cis-regulatory, Insertion	Ovis aries sheep - (species) D	Domesticated	Linkage Mapping	Demars J; Cano M; Drouilhet L ; et al. (2017) Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral [...]	GP00002195	IRF2BP2 Q7Z5L9	Morphology	insertion of an antisense EIF2S2 retrogene (asEIF2S2) into the 3′ UTR of the IRF2BP2 gene ; RNA-RNA hybrid creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	IRF2BP2	Ovis aries sheep - (species)	Published - Accepted by Curator
IRF4	Coloration (skin)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]	GP00001364	IRF4 Q15306	Morphology	a C>T substitution in intron4 located within an enhancer	Homo sapiens human - (species)	Homo sapiens human - (species) D	IRF4	Homo sapiens human - (species)	Published - Accepted by Curator
JAZF1	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Johansson A; Marroni F; Hayward C ; et al. (2009) Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide assoc[...] 1 Additional References Soranzo N; Rivadeneira F; Chinappen-Horsley U (2009) Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations wi[...]	GP00000507	JAZF1 Q86VZ6	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	JAZF1	Homo sapiens human - (species)	Published - Accepted by Curator
Kcnj13	Coloration	Unknown, Unknown	Danio aesculapii (species) D	Interspecific	Candidate Gene	Podobnik M; Frohnhöfer HG; Dooley CM ; et al. (2020) Evolution of the potassium channel gene Kcnj13 underlies colour pattern diversification in Danio fis[...]	GP00002364	Kcnj13 P86046	Morphology		Danio rerio zebrafish - (species)	Danio aesculapii (species) D	Kcnj13	Danio aesculapii (species)	Published - Accepted by Curator
KCNQ1	Body size (height)	Unknown, Epigenetic Change	Homo sapiens human - (species)	Intraspecific	Association Mapping	Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015) Height-reducing variants and selection for short stature in Sardinia.	GP00000511	KCNQ1 P51787	Morphology	unknown causative change in an imprinted region - consistent with maternal inheritance detected by the association	Homo sapiens human - (species)	Homo sapiens human - (species)	KCNQ1	Homo sapiens human - (species)	Published - Accepted by Curator
Kit	Coloration (coat ; white-spotting)	Coding, Insertion N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Wong AK; Ruhe AL; Robertson KR ; et al. (2013) A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.	GP00002228	Kit P05532	Morphology	a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2 resulting in frameshift N	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	Kit	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Durkin K; Coppieters W; Drögemüller C ; et al. (2012) Serial translocation by means of circular intermediates underlies colour sidedness in cattle.	GP00000514	Kit P05532	Morphology	Copy Number Variation of <600kb segments encompassing KIT	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Brooks SA; Bailey E (2005) Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.	GP00000515	Kit P05532	Morphology	T->A in intron 16; leads to skipping of exon 17	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00000516	Kit P05532	Morphology	c.2151C>G pY717* N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000517	Kit P05532	Morphology	full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Indel	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	Montague MJ; Li G; Gandolfi B ; et al. (2014) Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]	GP00000518	Kit P05532	Morphology	Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn c. 1035_1036delinsCA GAGCAY > GACAAY	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000519	Kit P05532	Morphology	Excision of the full-length FERV1 elevement leaving the two LTR residues	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	2 Mutations:	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. 3 Additional References Rubin CJ; Megens HJ; Martinez Barrio A (2012) Strong signatures of selection in the domestic pig genome. Sun G; Liang X; Qin K (2020) Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Us[...] Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00000520	Kit P05532	Morphology	2 mutations	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Vulpes vulpes red fox - (species) D	Domesticated	Linkage Mapping	Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015) Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.	GP00000521	Kit P05532	Morphology	splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00001326	Kit P05532	Morphology	4.3kb duplication (DUP2) located about 100 kb upstream of KIT	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Unknown, Unknown	Vulpes vulpes red fox - (species) D	Domesticated	Association Mapping	Kukekova AV; Johnson JL; Kharlamova AV ; et al. (2016) Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containi[...]	GP00001328	Kit P05532	Morphology	unknown	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001340	Kit P05532	Morphology	c.662A>C p.Tyr221Ser	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001341	Kit P05532	Morphology	c.1978+2T>A in splice donor site	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00001344	Kit P05532	Morphology	c.1789G>A p.G597R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Brenig B; Beck J; Floren C ; et al. (2013) Molecular genetics of coat colour variations in White Galloway and White Park cattle.	GP00001345	Kit P05532	Morphology	duplication and aberrant insertion on chromosome 29	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Other, SNP	Vulpes lagopus Arctic fox - (species) D	Domesticated	Candidate Gene	Yan SQ; Hou JN; Bai CY ; et al. (2014) A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white[...]	GP00002192	Kit P05532	Morphology	dominant white coat colour of blue fox results from an exon 12 skipping caused by a c.1867+1G>T substitution in the first nucleotide of intron 12 of the KIT gene	Vulpes lagopus Arctic fox - (species)	Vulpes lagopus Arctic fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002196	Kit P05532	Morphology	the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle)	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Küttel L; Letko A; Häfliger IM ; et al. (2019) A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. 1 Additional References Artesi M; Tamma N; Deckers M (2020) Colour-sidedness in Gloucester cattle is associated with a complex structural variant impacting regu[...]	GP00002197	Kit P05532	Morphology	Complex chromosomal rearragements including a ~310-kb duplication	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002198	Kit P05532	Morphology	c.706A>T p.K236* N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002199	Kit P05532	Morphology	c.1805C>T p.A602V	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002200	Kit P05532	Morphology	c.1960G>A p.G654R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002201	Kit P05532	Morphology	c.2222-1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002202	Kit P05532	Morphology	c.1126_1129delGAAC p.E376FfsX3 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002203	Kit P05532	Morphology	c.2684+1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002204	Kit P05532	Morphology	c.338-1G>C (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002205	Kit P05532	Morphology	c.2193delG p.T732QfsX9 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002206	Kit P05532	Morphology	c.856G>A p.G286R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002207	Kit P05532	Morphology	c.1597T>C p.C533R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002208	Kit P05532	Morphology	c.2021T>C p.L674P	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002209	Kit P05532	Morphology	c.2001A>T p.E667D	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002210	Kit P05532	Morphology	c.2472+5G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002211	Kit P05532	Morphology	c.2489A>T p.K830I	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002212	Kit P05532	Morphology	c.2392_2445del p.H798_N815del N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002213	Kit P05532	Morphology	c.2045G>A p.R682H	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002214	Kit P05532	Morphology	c.1322A>G p.Y441C	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002215	Kit P05532	Morphology	c.1346 + 1G>A (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Jagannathan V; Rieder S ; et al. (2015) A novel KIT variant in an Icelandic horse with white-spotted coat colour.	GP00002216	Kit P05532	Morphology	c.2369delC p.Ala790Glufs*20 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Holl HM; Brooks SA; Carpenter ML ; et al. (2017) A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all whi[...]	GP00002217	Kit P05532	Morphology	c.756+1G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Capomaccio S; Milanesi M; Nocelli C ; et al. (2017) Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Ital[...]	GP00002218	Kit P05532	Morphology	g.77736559C>T (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Dürig N; Jude R; Holl H ; et al. (2017) Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]	GP00002219	Kit P05532	Morphology	g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002220	Kit P05532	Morphology	c.1473T>G p.Cys491Trp	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002221	Kit P05532	Morphology	c.2536delA p.Ser846Valfs*15	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002222	Kit P05532	Morphology	c.668T>C p.Leu223Pro	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hug P; Jude R; Henkel J ; et al. (2019) A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.	GP00002223	Kit P05532	Morphology	g.79;579;925-79;581;197del 1273bp deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Lim HT; Zhong T; Cho IC ; et al. (2011) Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrosse[...] 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002227	Kit P05532	Morphology	U(26) repeat in intron 5 of the KIT gene with a single G interruption likely to mediate skipping of exon 5 of the gene in some tissues including skin ; the WT allele has an U(27) repeat interrupted by 5 G	Sus scrofa domesticus domestic pig - (subspecies)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat ; white-spotting)	Coding, Deletion N	Camelus dromedarius Arabian camel - (species) D	Domesticated	Candidate Gene	Holl H; Isaza R; Mohamoud Y ; et al. (2017) A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.	GP00002229	Kit P05532	Morphology	c.1842delG p.M614IfsX5 N	Camelus dromedarius Arabian camel - (species)	Camelus dromedarius Arabian camel - (species) D	Kit (type III receptor protein-tyrosine kinase)	Camelus dromedarius Arabian camel - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Gene Amplification, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001342	Kit P05532	Morphology	serial translocations Cs6 and Cs29	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D	Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Unknown, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001343	Kit P05532	Morphology	haplotype Swf (indels and SNP)	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D	Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Seitz JJ; Schmutz SM; Thue TD ; et al. (1999) A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...] 1 Additional References Aasland M; Klungland H; Lien S (2000) Two polymorphisms in the bovine mast cell growth factor gene (MGF).	GP00000101	KITLG P21583	Morphology	Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit ligand	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Miller CT; Beleza S; Pollen AA ; et al. (2007) cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...] 1 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans.	GP00000522	KITLG P21583	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
Kit ligand	Coloration (gills; ventrum)	Cis-regulatory, Unknown	Gasterosteus aculeatus three-spined stickleback - (species)	Intraspecific	Linkage Mapping	Miller CT; Beleza S; Pollen AA ; et al. (2007) cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...]	GP00000523	KITLG P21583	Morphology	Not identified	Gasterosteus aculeatus three-spined stickleback - (species)	Gasterosteus aculeatus three-spined stickleback - (species)	Kit ligand	Gasterosteus aculeatus three-spined stickleback - (species)	Published - Accepted by Curator
Kit ligand	Coloration (hair)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Guenther CA; Tasic B; Luo L ; et al. (2014) A molecular basis for classic blond hair color in Europeans.	GP00001349	KITLG P21583	Morphology	A>G SNP(rs12821256) 350kb upstream of transcription start	Homo sapiens human - (species)	Homo sapiens human - (species) D	Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
KRT25	Hair type (curly)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Morgenthaler C; Diribarne M; Capitan A ; et al. (2017) A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly[...] 1 Additional References Thomer A; Gottschalk M; Christmann A (2018) An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.	GP00002230	Krt25 Q8VCW2	Morphology	c.266G>A p.Arg89His	Equus caballus horse - (species)	Equus caballus horse - (species) D	KRT25	Equus caballus horse - (species)	Published - Accepted by Curator
KRT25	Hair type (curly)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Thomer A; Gottschalk M; Christmann A ; et al. (2018) An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.	GP00002288	Sp6 Q9ESX2	Morphology	c.1090G>A p.Asp364Asn	Equus caballus horse - (species)	Equus caballus horse - (species) D	KRT25	Equus caballus horse - (species)	Published - Accepted by Curator
KRT27	Hair type (curly)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Daetwyler HD; Capitan A; Pausch H ; et al. (2014) Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.	GP00002026	KRT27 Q0P5J6	Morphology	g.41636961C>G c.276C>G p.Asn92Lys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	KRT27	Bos taurus cattle - (species)	Published - Accepted by Curator
KRT6A	Feathers	Coding, Deletion	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Ng CS; Wu P; Foley J ; et al. (2012) The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.	GP00000527	Krt6a P50446	Morphology	69bp deletion partially overlapping with exon 5	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	KRT6A	Gallus gallus chicken - (species)	Published - Accepted by Curator
KRT71	Hair type (curly)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Cadieu E; Neff MW; Quignon P ; et al. (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00000524	Krt71 Q9R0H5	Morphology	c.451A>T in exon 2 - Arg151Trp	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	KRT71	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
KRT71	Hair type (curly and hairless)	2 Mutations: Coding	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010) The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.	GP00000525	Krt71 Q9R0H5	Morphology	2 mutations	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	KRT71	Felis catus domestic cat - (species)	Published - Accepted by Curator
KRT71	Hair type (curly and hairless)	Coding, Deletion N	Rattus norvegicus Norway rat - (species) D	Domesticated	Linkage Mapping	Kuramoto T; Hirano R; Kuwamura M ; et al. (2010) Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gen[...]	GP00001729	Krt71 Q9R0H5	Morphology	a 7-bp deletion at the splicing acceptor site of intron 1. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the alpha-helical rod domain of KRT71 protein N	Rattus norvegicus Norway rat - (species)	Rattus norvegicus Norway rat - (species) D	KRT71	Rattus norvegicus Norway rat - (species)	Published - Accepted by Curator
KRT71	Hair type (curly and hairless)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010) The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.	GP00001730	Krt71 Q9R0H5	Morphology	eight base pair deletion mutation in exon one of the keratin 71 (KRT71) c.334delTGTGCCCA p.Met93AsnfsX14 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	KRT71	Bos taurus cattle - (species)	Published - Accepted by Curator
KRT71	Hair type (curly)	Coding, Indel	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Bauer A; Hadji Rasouliha S; Brunner MT ; et al. (2019) A second KRT71 allele in curly coated dogs. 1 Additional References Salmela E; Niskanen J; Arumilli M (2019) A novel KRT71 variant in curly-coated dogs.	GP00002231	Krt71 Q9R0H5	Morphology	c.1266_1273delinsACA p.Ser422ArgfsTer?	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	KRT71	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
KRT71	Hair type (curly)	Coding, SNP N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Gandolfi B; Alhaddad H; Joslin SE ; et al. (2013) A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.	GP00002232	Krt71 Q9R0H5	Morphology	c.445-1G>C in splice site likely disrupts the highly conserved acceptor splicing site of intron one. Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	KRT71	Felis catus domestic cat - (species)	Published - Accepted by Curator
KRT75L4	Feathers	Coding, Deletion	Gallus gallus chicken - (species) D	Domesticated	Association Mapping	Guo X; Li YQ; Wang MS ; et al. (2018) A parallel mechanism underlying frizzle in domestic chickens.	GP00002334	KRT75L4 A0A1L1RKR4	Morphology	15bp deletion resulting in loss of 5 conserved amino-acids	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	KRT75L4	Gallus gallus chicken - (species)	Published - Accepted by Curator
KUK	Root development	2 Mutations: Unknown	Arabidopsis thaliana thale cress - (species)	Intraspecific	Association Mapping	Meijón M; Satbhai SB; Tsuchimatsu T ; et al. (2014) Genome-wide association study using cellular traits identifies a new regulator of root development i[...]	GP00001233	At1g60370 O80758	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	KUK	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
Latexin (Lxn)	Stem cell number (hematopoietic precursors)	Cis-regulatory, Unknown	Mus musculus house mouse - (species)	Intraspecific	Linkage Mapping	Liang Y; Jansen M; Aronow B ; et al. (2007) The quantitative trait gene latexin influences the size of the hematopoietic stem cell population in[...]	GP00000534	Lxn P70202	Morphology	Not identified	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	Latexin (Lxn)	Mus musculus house mouse - (species)	Published - Accepted by Curator
lbh (limb bud and heart homolog)	Cranio-facial morphology (mandible)	Coding, SNP	Labeotropheus fuelleborni blue mbuna - (species) D	Interspecific	Linkage Mapping	Powder KE; Cousin H; McLinden GP ; et al. (2014) A nonsynonymous mutation in the transcriptional regulator lbh is associated with cichlid craniofacia[...]	GP00001387	LBH Q53QV2	Morphology	G>A p.R17Q	Maylandia zebra zebra mbuna - (species)	Labeotropheus fuelleborni blue mbuna - (species) D	lbh (limb bud and heart homolog)	Labeotropheus fuelleborni blue mbuna - (species)	Published - Accepted by Curator
LCORL	Body size	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Lindholm-Perry AK; Sexten AK; Kuehn LA ; et al. (2011) Association, effects and validation of polymorphisms within the NCAPG - LCORL locus located on BTA6 [...]	GP00000535	LCORL Q8N3X6	Morphology	Not identified	Bos taurus cattle - (species)	Bos taurus cattle - (species)	LCORL	Bos taurus cattle - (species)	Published - Accepted by Curator
LCORL	Body size	Unknown, Unknown	Equus caballus horse - (species)	Domesticated	Linkage Mapping	Makvandi-Nejad S; Hoffman GE; Allen JJ ; et al. (2012) Four loci explain 83% of size variation in the horse. 3 Additional References Metzger J; Schrimpf R; Philipp U (2013) Expression levels of LCORL are associated with body size in horses. Tetens J; Widmann P; Kühn C (2013) A genome-wide association study indicates LCORL/NCAPG as a candidate locus for withers height in Ger[...] Signer-Hasler H; Flury C; Haase B (2012) A genome-wide association study reveals loci influencing height and other conformation traits in hor[...]	GP00000536	LCORL Q8N3X6	Morphology	Not identified	Equus caballus horse - (species)	Equus caballus horse - (species)	LCORL	Equus caballus horse - (species)	Published - Accepted by Curator
LCORL	Body size	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Horikoshi M; Yaghootkar H; Mook-Kanamori DO ; et al. (2013) New loci associated with birth weight identify genetic links between intrauterine growth[...]	GP00000537	LCORL Q8N3X6	Morphology	Not identified	Homo sapiens human - (species)	Homo sapiens human - (species)	LCORL	Homo sapiens human - (species)	Published - Accepted by Curator
Ldia2 - Diaphanous-related formin	Shell chirality (coiling)	Coding, Deletion N	Lymnaea stagnalis great pond snail - (species) D	Intraspecific	Association Mapping	Davison A; McDowell GS; Holden JM ; et al. (2016) Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog.	GP00000538	DIAPH1 O60610	Morphology	1bp deletion resulting in frame-shift (pseudogenization) N	Lymnaea stagnalis great pond snail - (species)	Lymnaea stagnalis great pond snail - (species) D	Ldia2 - Diaphanous-related formin	Lymnaea stagnalis great pond snail - (species)	Published - Accepted by Curator
LIGHT AREAS1 (LAR1)	Coloration (flowers)	Cis-regulatory, Unknown	Erythranthe lewisii (species)	Interspecific	Linkage Mapping	Yuan YW; Rebocho AB; Sagawa JM ; et al. (2016) Competition between anthocyanin and flavonol biosynthesis produces spatial pattern variation of flor[...]	GP00000543	LAR1 A0A0S2T0F2	Morphology	unknown	Erythranthe lewisii (species)	Erythranthe lewisii (species)	LIGHT AREAS1 (LAR1)	Erythranthe lewisii (species)	Published - Accepted by Curator
lin-48	Excretory duct position	4 Mutations: Cis-regulatory Unknown	Caenorhabditis elegans (species) D	Interspecific	Candidate Gene	Wang X; Chamberlin HM (2002) Multiple regulatory changes contribute to the evolution of the Caenorhabditis lin-48 ovo gene. 1 Additional References Wang X; Chamberlin HM (2004) Evolutionary innovation of the excretory system in Caenorhabditis elegans.	GP00000544	lin-48 G5EDU6	Morphology	4 mutations	Caenorhabditis briggsae (species) Caenorhabditis remanei (species) Caenorhabditis japonica (species)	Caenorhabditis elegans (species) D	lin-48	Caenorhabditis elegans (species)	Published - Accepted by Curator
LIN28B	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000548	LIN28B Q6ZN17	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	LIN28B	Homo sapiens human - (species)	Published - Accepted by Curator
LIPH	Hair length	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Linkage Mapping	Diribarne M; Mata X; Chantry-Darmon C ; et al. (2011) A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Ory[...]	GP00000550	Liph Q8CIV3	Morphology	1bp deletion resulting in frameshift N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	LIPH	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Low-density lipoprotein receptor-related protein 2	Organ size (eye; enlarged)	3 Mutations: Coding N	Carassius auratus goldfish - (species) D	Domesticated	Association Mapping	Kon T; Omori Y; Fukuta K ; et al. (2020) The Genetic Basis of Morphological Diversity in Domesticated Goldfish.	GP00002349	LRP2 P98164	Morphology	3 mutations	Carassius auratus goldfish - (species)	Carassius auratus goldfish - (species) D	Low-density lipoprotein receptor-related protein 2	Carassius auratus goldfish - (species)	Published - Accepted by Curator
mab-23	Male genitalia	Coding, SNP N	Caenorhabditis elegans (species) D	Intraspecific	Linkage Mapping	Lints R; Emmons SW (2002) Regulation of sex-specific differentiation and mating behavior in C. elegans by a new member of the [...] 1 Additional References Hodgkin J; Doniach T (1997) Natural variation and copulatory plug formation in Caenorhabditis elegans.	GP00001323	mab-23 G5ECK3	Morphology	TGC>TTC - cysteine of the DM motif transformed into phenylalanine; so is likely to disrupt DNA-binding function N	Caenorhabditis elegans (species)	Caenorhabditis elegans (species) D	mab-23	Caenorhabditis elegans (species)	Published - Accepted by Curator
MaMyb2	Coloration (flowers)	Cis-regulatory, Unknown	Diplacus aurantiacus (species)	Intraspecific	Linkage Mapping	Streisfeld MA; Young WN; Sobel JM (2013) Divergent selection drives genetic differentiation in an R2R3-MYB transcription factor that contribu[...]	GP00000563	Myb2 M9QXG2	Morphology	unknown expression-phenotype co-vary	Diplacus aurantiacus (species)	Diplacus aurantiacus (species)	MaMyb2	Diplacus aurantiacus (species)	Published - Accepted by Curator
MC1R	Coloration (albinism)	Coding, Deletion N	Astyanax mexicanus Mexican tetra - (species) D	Intraspecific	Linkage Mapping	Gross JB; Borowsky R; Tabin CJ (2009) A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]	GP00000567	MC1R Q01726	Morphology	2bp deletion resulting in frameshift N	Astyanax mexicanus Mexican tetra - (species)	Astyanax mexicanus Mexican tetra - (species) D	MC1R	Astyanax mexicanus Mexican tetra - (species)	Published - Accepted by Curator
MC1R	Coloration (albinism)	Coding, SNP	Astyanax mexicanus Mexican tetra - (species) D	Intraspecific	Linkage Mapping	Gross JB; Borowsky R; Tabin CJ (2009) A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]	GP00000568	MC1R Q01726	Morphology	Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)	Astyanax mexicanus Mexican tetra - (species)	Astyanax mexicanus Mexican tetra - (species) D	MC1R	Astyanax mexicanus Mexican tetra - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	2 Mutations: Coding SNP	Vulpes lagopus Arctic fox - (species)	Interspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...] 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000569	MC1R Q01726	Morphology	2 mutations	Vulpes vulpes red fox - (species)	Vulpes lagopus Arctic fox - (species)	MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. 1 Additional References Joerg H; Fries HR; Meijerink E (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene.	GP00000571	MC1R Q01726	Morphology	1 bp deletion at 104: frameshift and premature stop at amino acid 156 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.	GP00000572	MC1R Q01726	Morphology	L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Newton JM; Wilkie AL; He L ; et al. (2000) Melanocortin 1 receptor variation in the domestic dog. 1 Additional References Everts RE; Rothuizen J; van Oost BA (2000) Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) [...]	GP00000573	MC1R Q01726	Morphology	R306ter; deletes 12 of 17 a.a. from C-terminus	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb) MC1R studies in dogs with melanistic mask or brindle patterns.	GP00000574	MC1R Q01726	Morphology	M264V	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Gene Loss, Complex Change N	Cavia porcellus domestic guinea pig - (species) D	Domesticated	Candidate Gene	Cone RD; Lu D; Koppula S ; et al. (1996) The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation.	GP00000575	MC1R Q01726	Morphology	Deletion of part or all of gene N	Cavia porcellus domestic guinea pig - (species)	Cavia porcellus domestic guinea pig - (species) D	MC1R	Cavia porcellus domestic guinea pig - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000576	MC1R Q01726	Morphology	R18C	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000577	MC1R Q01726	Morphology	R109W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000578	MC1R Q01726	Morphology	R160W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000579	MC1R Q01726	Morphology	Q233H	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus caballus horse - (species)	Intraspecific	Candidate Gene	Marklund L; Moller MJ; Sandberg K ; et al. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000580	MC1R Q01726	Morphology	S83F	Equus caballus horse - (species)	Equus caballus horse - (species)	MC1R	Equus caballus horse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Puma yagouaroundi jaguarundi - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000581	MC1R Q01726	Morphology	Deletion of aa 95-102	Puma yagouaroundi jaguarundi - (species)	Puma yagouaroundi jaguarundi - (species) D	MC1R	Puma yagouaroundi jaguarundi - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion N	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000582	MC1R Q01726	Morphology	1bp deletion at 183; frameshift & premature stop N	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus poschiavinus (species)	Interspecific	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000583	MC1R Q01726	Morphology	S69L	Mus musculus house mouse - (species)	Mus poschiavinus (species)	MC1R	Mus poschiavinus (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000584	MC1R Q01726	Morphology	E92K	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000585	MC1R Q01726	Morphology	L98P	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Intraspecific	Candidate Gene	Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr) A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]	GP00000586	MC1R Q01726	Morphology	W252C	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, Deletion	Numida meleagris helmeted guineafowl - (species) D	Domesticated	Candidate Gene	Vidal O; Araguas RM; Fernández E ; et al. (2010) Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the[...]	GP00000587	MC1R Q01726	Morphology	Phe256del	Numida meleagris helmeted guineafowl - (species)	Numida meleagris helmeted guineafowl - (species) D	MC1R	Numida meleagris helmeted guineafowl - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000588	MC1R Q01726	Morphology	6bp in-frame del of 94-95	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000589	MC1R Q01726	Morphology	30bp in-frame del of 102-111	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Scotti E; Colombo M ; et al. (2010) A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]	GP00000590	MC1R Q01726	Morphology	6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000591	MC1R Q01726	Morphology	D121N	Ovis aries sheep - (species)	Ovis aries sheep - (species)	MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000592	MC1R Q01726	Morphology	M73K	Ovis aries sheep - (species)	Ovis aries sheep - (species)	MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Panthera onca jaguar - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000593	MC1R Q01726	Morphology	Deletion of aa 101-105 and L106T	Panthera onca jaguar - (species)	Panthera onca jaguar - (species) D	MC1R	Panthera onca jaguar - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Linkage Mapping	Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006) A single amino acid mutation contributes to adaptive beach mouse color pattern.	GP00000594	MC1R Q01726	Morphology	R65C	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)	MC1R	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Rattus rattus black rat - (species)	Interspecific	Candidate Gene	Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011) Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]	GP00000595	MC1R Q01726	Morphology	Glu93Lys	Rattus tanezumi Oriental house rat - (species)	Rattus rattus black rat - (species)	MC1R	Rattus rattus black rat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D	Intraspecific	Candidate Gene	McRobie H; Thomas A; Kelly J (2009 Nov-Dec) The genetic basis of melanism in the gray squirrel (Sciurus carolinensis). 1 Additional References McRobie HR; Moncrief ND; Mundy NI (2019) Multiple origins of melanism in two species of North American tree squirrel (Sciurus).	GP00000596	MC1R Q01726	Morphology	Deletion of 8 a.a.	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D	MC1R	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ursus americanus American black bear - (species)	Intraspecific	Candidate Gene	Ritland K; Newton C; Marshall HD (2001) Inheritance and population structure of the white-phased "Kermode" black bear.	GP00000597	MC1R Q01726	Morphology	Y298C	Ursus americanus American black bear - (species)	Ursus americanus American black bear - (species)	MC1R	Ursus americanus American black bear - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes vulpes red fox - (species)	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000598	MC1R Q01726	Morphology	C125R; constitutively active receptor	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species)	MC1R	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Anser caerulescens snow goose - (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000599	MC1R Q01726	Morphology	V85M	Anser caerulescens snow goose - (species)	Anser caerulescens snow goose - (species)	MC1R	Anser caerulescens snow goose - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coereba flaveola Bananaquit - (species) D	Intraspecific	Candidate Gene	Theron E; Hawkins K; Bermingham E ; et al. (2001) The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]	GP00000600	MC1R Q01726	Morphology	E92K	Coereba flaveola Bananaquit - (species)	Coereba flaveola Bananaquit - (species) D	MC1R	Coereba flaveola Bananaquit - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Columba livia rock pigeon - (species)	Domesticated	Candidate Gene	Guernsey MW; Ritscher L; Miller MA ; et al. (2013) A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]	GP00000601	MC1R Q01726	Morphology	Val85Met (G253A)	Columba livia rock pigeon - (species)	Columba livia rock pigeon - (species)	MC1R	Columba livia rock pigeon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coturnix japonica Japanese quail - (species)	Domesticated	Linkage Mapping	Nadeau NJ; Minvielle F; Mundy NI (2006) Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]	GP00000602	MC1R Q01726	Morphology	E92K	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species)	MC1R	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, Deletion	Falco eleonorae (species) D	Intraspecific	Candidate Gene	Gangoso L; Grande JM; Ducrest AL ; et al. (2011) MC1R-dependent, melanin-based colour polymorphism is associated with cell-mediated response in the E[...]	GP00000603	MC1R Q01726	Morphology	Deletion of 3 a.a.	Falco eleonorae (species)	Falco eleonorae (species) D	MC1R	Falco eleonorae (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Falco rusticolus gyrfalcon - (species)	Intraspecific	Candidate Gene	Johnson JA; Ambers AD; Burnham KK (2012 May-Jun) Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 recept[...]	GP00000604	MC1R Q01726	Morphology	Val128Ile	Falco rusticolus gyrfalcon - (species)	Falco rusticolus gyrfalcon - (species)	MC1R	Falco rusticolus gyrfalcon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers; eyes)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...] 2 Additional References Kerje S; Lind J; Schütz K (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken. Dávila SG; Gil MG; Resino-Talaván P (2014) Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]	GP00000605	MC1R Q01726	Morphology	E92K; constitutive activation	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000606	MC1R Q01726	Morphology	C33W	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000607	MC1R Q01726	Morphology	D37G	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000608	MC1R Q01726	Morphology	L244P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Kerje S; Lind J; Schütz K ; et al. (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken. 1 Additional References Dávila SG; Gil MG; Resino-Talaván P (2014) Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]	GP00000609	MC1R Q01726	Morphology	H215P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Malurus leucopterus white-winged fairy-wren - (species)	Intraspecific	Candidate Gene	Doucet SM; Shawkey MD; Rathburn MK ; et al. (2004) Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene betw[...]	GP00000610	MC1R Q01726	Morphology	A16T caused by guanine-to-adenine (G_A) transition at site 46; and/or I38N cause by a tyrosine-to-adenine (T_A) transition at site 113; and/or V11N caused by a G_A transition at site 331; and/or Q157R caused by an A_G substitution at site 470; Val166Ileu - exact causing amino acid change(s) unknown	Malurus leucopterus white-winged fairy-wren - (species)	Malurus leucopterus white-winged fairy-wren - (species)	MC1R	Malurus leucopterus white-winged fairy-wren - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Stercorarius parasiticus (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000611	MC1R Q01726	Morphology	R230H	Stercorarius parasiticus (species)	Stercorarius parasiticus (species)	MC1R	Stercorarius parasiticus (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula leucogaster (species)	Intraspecific	Candidate Gene	Baião PC; Parker PG (2012 May-Jun) Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).	GP00000612	MC1R Q01726	Morphology	R112H	Sula leucogaster (species)	Sula leucogaster (species)	MC1R	Sula leucogaster (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula sula red-footed booby - (species)	Intraspecific	Candidate Gene	Baião PC; Schreiber E; Parker PG (2007 Jul-Aug) The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]	GP00000613	MC1R Q01726	Morphology	V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation	Sula sula red-footed booby - (species)	Sula sula red-footed booby - (species)	MC1R	Sula sula red-footed booby - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Smith R; Healy E; Siddiqui S (1998) Melanocortin 1 receptor variants in an Irish population.	GP00000615	MC1R Q01726	Morphology	R151C	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000616	MC1R Q01726	Morphology	D294H	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000617	MC1R Q01726	Morphology	R160W	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Box NF; Wyeth JR; O'Gorman LE ; et al. (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. 3 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Harding RM; Healy E; Ray AJ (2000) Evidence for variable selective pressures at MC1R. Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000618	MC1R Q01726	Morphology	Val60Leu	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000619	MC1R Q01726	Morphology	Asp84Glu	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000620	MC1R Q01726	Morphology	Val92Met	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000621	MC1R Q01726	Morphology	Arg142His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000622	MC1R Q01726	Morphology	Arg151Cys	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000623	MC1R Q01726	Morphology	Ile155Thr	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000624	MC1R Q01726	Morphology	Arg160Trp	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000625	MC1R Q01726	Morphology	Arg163Gln	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000626	MC1R Q01726	Morphology	Asp294His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Aspidoscelis inornatus Little striped whiptail - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000627	MC1R Q01726	Morphology	I170T	Aspidoscelis inornatus Little striped whiptail - (species)	Aspidoscelis inornatus Little striped whiptail - (species)	MC1R	Aspidoscelis inornatus Little striped whiptail - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Holbrookia maculata lesser earless lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000628	MC1R Q01726	Morphology	V168I; but failed functional validation in Rosenblum et al. 2010	Holbrookia maculata lesser earless lizard - (species)	Holbrookia maculata lesser earless lizard - (species)	MC1R	Holbrookia maculata lesser earless lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Sceloporus undulatus fence lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000629	MC1R Q01726	Morphology	H208Y	Sceloporus undulatus fence lizard - (species)	Sceloporus undulatus fence lizard - (species)	MC1R	Sceloporus undulatus fence lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, Insertion N	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Kijas JM; Moller M; Plastow G ; et al. (2001) A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...] 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000631	MC1R Q01726	Morphology	2bp insertion at 23 generates early stop @ 56 & D"121"N ? N	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000632	MC1R Q01726	Morphology	V"92"M actually at 95	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000633	MC1R Q01726	Morphology	D"121"N Actually 124	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000634	MC1R Q01726	Morphology	A"161"V actually 164	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000635	MC1R Q01726	Morphology	L"99" P Actually 102	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanoco