Gephebase

Gephebase Search 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
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)	Cis-regulatory, Unknown	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	several candidate mutations (SNPs and deletion of Ser in exon 2) associated with tail stripe coloration	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)	Cis-regulatory, SNP	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	several candidate SNPs associated with dorso-ventral boundary of coloration	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)	Cis-regulatory, SNP	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	several candidate SNPs associated with dorsal brightness	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)	Cis-regulatory, SNP	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	one candidate SNP associated with dorsal hue	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, Deletion	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	Deletion in exon 2 leading to a Ser deletion causes causes lighter coat colour via changes in protein binding properties ; as demonstrated by transgenic mice with either Peromyscus alleles (Barrett et al. 2019)	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	Coding, Deletion 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	deletion of 5 bp - g.100-104delAGGAA in exon2 - frame-shift mutation that introduces a premature stop codon at amino acid position 64 resulting in a mature peptide that lacks the functionally important cysteine-signalling domain. N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat) Lifespan	Coding, SNP 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	g.5172T-A in exon 4 - non-synonymous mutation that is predicted to cause a cysteine to serine substitution at codon 126 within the signalling domain of the protein N	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