ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000003
ABCA2
A0A0S0G7V0
Physiology
5bp deletion inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00002056
ABCA2
A0A0S0G7V0
Physiology
14bp deletion resulting in missense mutations. N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
ABCA2
Helicoverpa punctigera
(species)
Published - Accepted by Curator
ABCB1
Xenobiotic resistance (insecticide; Bt Cry3Aa toxin)
Coding,
Deletion
N
Chrysomela tremula
(species) D
Intraspecific
Candidate Gene
Pauchet Y; Bretschneider A; Augustin S ; et al. (2016)
A P-Glycoprotein Is Linked to Resistance to the Bacillus thuringiensis Cry3Aa Toxin in a Leaf Beetle[...]
GP00002466
ABCB1
P08183
Physiology
a four-base-pair deletion at position 1561 introducing a frame shift with a premature stop codon leading to loss of the TpM1 transporter motif as well as the complete second transmembrane domain N
Chrysomela tremula
(species)
Chrysomela tremula
(species) D
ABCB1
Chrysomela tremula
(species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Pauchet Y; Vogel H ; et al. (2010)
An ABC transporter mutation is correlated with insect resistance to Bacillus thuringiensis Cry1Ac to[...]
GP00000012
ABCC2
A0A0E3ZDK3
Physiology
22bp deletion N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
ABCC2
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Badenes-Pérez FR; Morrison A ; et al. (2011)
Parallel evolution of Bacillus thuringiensis toxin resistance in lepidoptera.
GP00000013
ABCC2
A0A0E3ZDK3
Physiology
30bp deletion N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
ABCC2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Deletion
N
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Park Y; González-Martínez RM; Navarro-Cerrillo G ; et al. (2014)
ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysi[...]
GP00001439
Physiology
About 500 nt genomic deletion over 2 exons involving 246 nt coding 82aa N
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
ABCC2
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000019
ABO
P16442
Physiology
1bp deletion (258G) resulting in frameshift N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
Deletion
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Kakani EG; Ioannides IM; Margaritopoulos JT ; et al. (2008)
A small deletion in the olive fly acetylcholinesterase gene associated with high levels of organopho[...]
1 Additional References
GP00000038
Ace
P07140
Physiology
9bp deletion of three glutamine residues at positions 642_644
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (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,
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)
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
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,
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
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)
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
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 (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
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,
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
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
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001806
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001807
Ahr
P30561
Physiology
45 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 5 of AHR2a to exon 4 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001808
Ahr
P30561
Physiology
83 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 11 of AHR2a to exon 6 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution; polychlorinated biphenyls; PCBs)
Coding,
Deletion
N
Microgadus tomcod
Atlantic tomcod - (species) D
Intraspecific
Candidate Gene
Wirgin I; Roy NK; Loftus M ; et al. (2011)
Mechanistic basis of resistance to PCBs in Atlantic tomcod from the Hudson River.
GP00001809
Ahr
P30561
Physiology
6-bp deletion - (nts 1314 to 1319 in exon 10; TTCCTC) that resulted in a two-amino acid (Phe-Leu) deletion located 43 amino acids downstream of the amino terminal of the AHR2 ligand binding domain N
Microgadus tomcod
Atlantic tomcod - (species)
Microgadus tomcod
Atlantic tomcod - (species) D
AHR2
Microgadus tomcod
Atlantic tomcod - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002669
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AHR2
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Gibson JB; Wilks AV; Agrotis A (1992)
Molecular relationships between alcohol dehydrogenase null-activity alleles from natural populations[...]
GP00001991
Adh
P00334
Physiology
438-bp deletion which removes most of exon 2. Lys to Thr substitution: ACG at the sites 1489--1491 N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ameloblastin (AMBN)
Tooth absence (no enamel production)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001934
AMBN
Q9NP70
Physiology
synteny of the corresponding region - the gene has been likely deleted from the chicken genome as a consequence of intrachromosomal rearrangements which have probably occurred in the lineage that led to the last common ancestor of modern birds N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
ameloblastin (AMBN)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Aminopeptidase N (APN)
Xenobiotic resistance (insecticide; Bt Cry2Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Experimental Evolution
Candidate Gene
Yang Y; Zhu YC; Ottea J ; et al. (2010)
Molecular characterization and RNA interference of three midgut aminopeptidase N isozymes from Bacil[...]
GP00002463
apn
Q9VFX3
Physiology
deletion removing 22 amino acids. The mutant form failed to bind Cry1Ac unlike the full-length susceptible form. N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Aminopeptidase N (APN)
Helicoverpa armigera
cotton bollworm - (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,
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
AOP2
Glucosinolate content
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000095
AOP2
Q945B5
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AOP2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001873
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - A881 deletion renders AQY1 inactive - size of the deletion not indicated in the paper - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001874
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - 955-bp deletion that removes the first 106 bp of AQY1 and its upstream region - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001875
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - 11-bp deletion that creates a stop codon in the middle of the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001876
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - deletion of nucleotide G at position 25 (G25) which creates a frameshift the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
GP00001877
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - G528 deletion which creates a frameshift the AQY2 gene - tested in assays - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (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
arcp-1
CO2 avoidance
Aggregation behavior
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Beets I; Zhang G; Fenk LA ; et al. (2019)
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Alteri[...]
GP00002067
CELE_F34D10.6
C6KRH4
Behavior
Behavior
8 bp deletion (mfP22) in the open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
arcp-1
Caenorhabditis elegans
(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,
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
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000124
HKT1
Q84TI7
Physiology
725bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000125
HKT1
Q84TI7
Physiology
687bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001908
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
ATP4A
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001920
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
ATP4A
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001922
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
ATP4A
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001928
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
ATP4A
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
3 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001909
ATP4B
P51164
Physiology
3 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
ATP4B
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Callorhinchus milii
elephant shark - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001916
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence N
Scyliorhinus canicula
smaller spotted catshark - (species)
Callorhinchus milii
elephant shark - (species) D
ATP4B
Callorhinchus milii
elephant shark - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001921
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
ATP4B
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001923
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
ATP4B
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001929
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
ATP4B
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (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
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bradbury LM; Fitzgerald TL; Henry RJ ; et al. (2005)
The gene for fragrance in rice.
1 Additional References
GP00000134
BADH2
Q84LK3
Physiology
8bp deletion resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Shi Weiwei; Yang Yi; Chen Saihua ; et al. (2008
)
Discovery of a new fragrance allele and the development of functional markers for the breeding of fr[...]
1 Additional References
GP00001772
BADH2
Q84LK3
Physiology
7-bp deletion in exon 2 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001773
BADH2
Q84LK3
Physiology
2-bp deletion in exon 1 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001778
BADH2
Q84LK3
Physiology
1-bp deletion in exon 10 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BBS9 (+ BMPER)
Growth rate
Coding,
Deletion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Association Mapping
Derks MFL; Lopes MS; Bosse M ; et al. (2018)
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes[...]
GP00002341
Bbs9
Q811G0
Physiology
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER N
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
BBS9 (+ BMPER)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Strychalski J; Brym P; Czarnik U ; et al. (2015)
A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.
GP00002152
BCO2
Q9BYV7
Physiology
AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
BCO2 = beta-carotene oxygenase 2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
beta-defensin 103 (CBD103)
Coloration (coat)
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Canis latrans
coyote - (species) D
Canis lupus
gray wolf - (species) D
Domesticated
Linkage Mapping
Candille SI; Kaelin CB; Cattanach BM ; et al. (2007)
A -defensin mutation causes black coat color in domestic dogs.
2 Additional References
GP00000141
CBD103
Q30KV0
Morphology; Physiology
3bp in-frame deletion in exon 2 = deletion of Gly23
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Canis latrans
coyote - (species) D
Canis lupus
gray wolf - (species) D
beta-defensin 103 (CBD103)
Canis lupus familiaris
dog - (subspecies)
Canis latrans
coyote - (species)
Canis lupus
gray wolf - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001264
BGLU6
Q682B4
Physiology
1-bp deletion of a splice site at position 395 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001266
BGLU6
Q682B4
Physiology
A deletion of one nucleotide in the seventh exon (BGLU6 CDS position 678) results in a premature stop codon in the accessions Bor-4, Se-0, Uod-1, and Zdr-1. premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001835
TUB2
P02557
Physiology
Del_3539006_3539808 – 802bp deletion of coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001838
TUB2
P02557
Physiology
Del_3539375_3539378 – 3bp deletion in coding exon 4 predicted to cause a frameshift in the ben-1 open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001839
TUB2
P02557
Physiology
Del_3539470_3539471 – 1bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001840
TUB2
P02557
Physiology
Del_3539507_3539514 – 7bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001841
TUB2
P02557
Physiology
Del_3539559_3539745 – 186 bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001844
TUB2
P02557
Physiology
Del_3539746_3539908 – 162 bp deletion in exon3-4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001848
TUB2
P02557
Physiology
Del_3540300_3540301 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001851
TUB2
P02557
Physiology
Del_3540407_3540408 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001852
TUB2
P02557
Physiology
Del_3540970_3544000 – 3030bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001853
TUB2
P02557
Physiology
Del_3541317_3541856 – 539 bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001856
TUB2
P02557
Physiology
Del_3541499_3541502 – 3bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(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
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
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
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
BMP15
Fertility (increased ovulation rate)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Martinez-Royo A; Jurado JJ; Smulders JP ; et al. (2008)
A deletion in the bone morphogenetic protein 15 gene causes sterility and increased prolificacy in R[...]
1 Additional References
GP00002158
Bmp15
Q9Z0L4
Physiology
c.525_541del17 p.Pro45Asnfs*54 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BNA1
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001878
BNA1
P47096
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA1
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA2
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001879
P47125NULL
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA2
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA4
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001880
BNA4
P38169
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA4
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA5
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001881
BNA5
Q05979
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA5
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA6
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001882
BNA6
P43619
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA6
[Candida] glabrata
(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
btr1
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001445
BTR1
A0A0K1RJT0
Physiology
1bp deletion at position 202 inducing a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr1
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
btr2
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001446
BTR2
A0A0K1RKV9
Physiology
11bp deletion at position 254-264 creating a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr2
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
BvCPSF73-Ia
Bolting time
Coding,
Deletion
N
Beta vulgaris
(species) D
Intraspecific
Linkage Mapping
Tränkner C; Lemnian IM; Emrani N ; et al. (2016)
A Detailed Analysis of the BR Locus Suggests a New Mechanism for Bolting after Winter in Sugar Beet [...]
GP00001411
CPSF73-I
Q9C952
Physiology
2bp deletion causing a frameshift resulting in a two third truncated protein N
Beta vulgaris
(species)
Beta vulgaris
(species) D
BvCPSF73-Ia
Beta vulgaris
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000162
BtR
Q19KJ3
Physiology
126bp in-frame deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000163
BtR
Q19KJ3
Physiology
202bp deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000164
BtR
Q19KJ3
Physiology
24bp in-frame deletion
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002450
A0A1B0RHM4
Physiology
24-bp deletion in putative exon 21 causing the loss of eight amino acid residues N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002451
A0A1B0RHM4
Physiology
126-bp deletion spanning a putative intron 15/exon 16 splice site that introduces a premature stop codon and causes loss of the final 929 amino acid residues. N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
Ostrinia furnacalis
Asian corn borer - (species) D
Intraspecific
Candidate Gene
Jin T; Chang X; Gatehouse AM ; et al. (2014)
Downregulation and mutation of a Cadherin gene associated with Cry1Ac resistance in the Asian Corn B[...]
1 Additional References
GP00002464
A0A1B0RHM4
Physiology
MPR-r2 has a 26-amino acid residue deletion in the TBR which results in reduced binding of Cry1Ac compared to the MPR from the susceptible strain.
Ostrinia furnacalis
Asian corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species) D
cadherin
Ostrinia furnacalis
Asian corn borer - (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
cathepsin E
Digestion (absence of stomach)
2 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001910
CTSE
P14091
Physiology
2 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
cathepsin E
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
Cf-2.1 and Cf-2.2
Pathogen resistance (leaf mold fungus ; root parasitic nematode)
Gene Loss,
Deletion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Dixon MS; Jones DA; Keddie JS ; et al. (1996)
The tomato Cf-2 disease resistance locus comprises two functional genes encoding leucine-rich repeat[...]
2 Additional References
GP00000180
Q41398
Physiology
loss of the two genes Cf-2.1 and Cf-2.2 (see Dixon et al. 1998) in cultivated tomato - resistance re-acquired from related species N
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
Cf-2.1 and Cf-2.2
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
Deletion
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001768
CNL
A0A172W603
Physiology
a 4 bp deletion resulting in a frameshift 795 bp downstream of the start codon and causing a premature stop codon N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002165
Cmah
Q61419
Physiology
c.1322delT p.Leu441* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (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
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Deletion
N
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Guo QY; Cai QX; Yan JP ; et al. (2013)
Single nucleotide deletion of cqm1 gene results in the development of resistance to Bacillus sphaeri[...]
1 Additional References
GP00002552
Q95WY5
Physiology
one-nucleotide deletion which results in a premature stop codon and leads to production of a truncated protein. N
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
Cpm1
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
CS
Plant secondary metabolite (pungency)
Cis-regulatory,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
1 Additional References
GP00001447
csy1
Q09UW1
Physiology
Large 2.5 kb deletion spanning 1.8 kb of the putative promoter and 0.7 kb of the first exon was observed in the C. annuum Bellpeppers N
Capsicum frutescens
(species)
Capsicum annuum
(species) D
CS
Capsicum annuum
(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
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
Deletion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002473
cyp6er1
A0A2I8B6P1
Physiology
Deletion of Pro377. This provides a more moderate but significant 4.5-fold increase in resistance.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP79D15
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000211
CYP79D15
B2Y2T9
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
CYP79D15
Trifolium repens
white clover - (species)
Published - Accepted by Curator
cytochrome c oxidase (COX7A)
Fertility
Lifespan
Locomotor activity
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Melvin RG; Katewa SD; Ballard JW (2008)
A candidate complex approach to study functional mitochondrial DNA changes: sequence variation and q[...]
1 Additional References
GP00001980
COX7A
Q9VHS2
Physiology
Physiology
Physiology
Deletion of two amino acids (Trp85 and Val86). The deletion occurs in subunit 7A of the mitochondrial electron trans-port chain protein cytochrome c oxidase (cox7A). The nuclear encoded cox7A gene produces a protein that isimported into the mitochondrion and forms a subunit of complexIV (cytochrome c oxidase) of the electron transport chain.
Drosophila simulans
(species)
Drosophila simulans
(species) D
cytochrome c oxidase (COX7A)
Drosophila simulans
(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
dentin sialophosphoprotein (DSPP)
Tooth absence (no enamel production)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001936
DSPP
Q9NZW4
Physiology
synteny of the corresponding region - only the N-terminal region of DSPP is present in the genome - 1-bp deletion in exon one leading to a reading frame shift were this sequence to be translated N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
dentin sialophosphoprotein (DSPP)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
desatF
Pheromone production
Cis-regulatory,
Deletion
Drosophila
(subgenus) D
Interspecific
Candidate Gene
Shirangi TR; Dufour HD; Williams TM ; et al. (2009)
Rapid evolution of sex pheromone-producing enzyme expression in Drosophila.
GP00000220
desatF
A7DZ97
Physiology
Inactivation of DSX-binding site
Drosophila takahashii
(species)
Drosophila
(subgenus) D
desatF
Drosophila
(subgenus)
Published - Accepted by Curator
desaturase 2 (desat2)
Pheromone production
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Takahashi A; Tsaur SC; Coyne JA ; et al. (2001)
The nucleotide changes governing cuticular hydrocarbon variation and their evolution in Drosophila m[...]
1 Additional References
GP00000221
Desat2
Q9VG68
Physiology
16bp deletion about 150bp upstream of transcription start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
desaturase 2 (desat2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
diacylglycerol acyltransferase 1-2 (DGAT1-2)
Oil composition
Oil yield
Coding,
Deletion
Zea mays
(species) D
Domesticated
Linkage Mapping
Zheng P; Allen WB; Roesler K ; et al. (2008)
A phenylalanine in DGAT is a key determinant of oil content and composition in maize.
GP00000223
DGAT1-2
B0LF77
Physiology
Physiology
Deletion of amino acid F469
Zea mays
(species)
Zea mays
(species) D
diacylglycerol acyltransferase 1-2 (DGAT1-2)
Zea mays
(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
Distorter on the X (Dox)
Sex determination (sex ratio distortion)
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Tao Y; Araripe L; Kingan SB ; et al. (2007)
A sex-ratio meiotic drive system in Drosophila simulans. II: an X-linked distorter.
GP00001969
Physiology
Deletion of 105bp, resulting in the loss of exon III, which deletes one of the 42bp elements that is tandemly repeated in wild-type Dsim\Dox.
Drosophila simulans
(species)
Drosophila simulans
(species) D
Distorter on the X (Dox)
Drosophila simulans
(species)
Published - Accepted by Curator
drh-1
Pathogen resistance (viral immunity)
Coding,
Deletion
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Ashe A; Bélicard T; Le Pen J ; et al. (2013)
A deletion polymorphism in the Caenorhabditis elegans RIG-I homolog disables viral RNA dicing and an[...]
GP00001308
drh-1
G5EDI8
Physiology
159 base deletion in CDS resulting in truncated but potentially non-null protein
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
drh-1
Caenorhabditis elegans
(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
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
EARLY FLOWERING 3 (here = Mat-a)
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Zakhrabekova S; Gough SP; Braumann I ; et al. (2012)
Induced mutations in circadian clock regulator Mat-a facilitated short-season adaptation and range e[...]
GP00000243
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3 (here = Mat-a)
Hordeum vulgare
(species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3)
Flowering time (latitudinal adaptation)
Coding,
Deletion
N
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Lu S; Zhao X; Hu Y ; et al. (2017)
Natural variation at the soybean J locus improves adaptation to the tropics and enhances yield.
GP00001683
CYP75B1
Q9SD85
Physiology
recessive allele responsible for the LJ trait - 10-bp deletion predicted to cause a frameshift resulting in premature termination of translation after 195 amino acids in the 714-amino-acid protein N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
EARLY FLOWERING 3(ELF3)
Glycine max
soybean - (species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLYMATURITY8
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000246
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3/ EARLYMATURITY8
Hordeum vulgare
(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
EDAR
Scales (reduced)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002360
EDAR
Q9UNE0
Morphology; Physiology
Deletion of a large part of the EDAR2 coding region. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
EDAR
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth absence (no enamel production)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001935
ENAM
Q9NRM1
Physiology
synteny of the corresponding region - the gene has been likely deleted from the chicken genome as a consequence of intrachromosomal rearrangements which have probably occurred in the lineage that led to the last common ancestor of modern birds N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
enamelin (ENAM)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth absence (no enamel production)
Coding,
Deletion
N
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001939
ENAM
Q9NRM1
Physiology
1-bp deletion. Various frameshift mutations were found in the distinct species. N
Cetacea
whales - (order)
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
enamelin (ENAM)
Eubalaena glacialis
North Atlantic right whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Eschrichtius robustus
grey whale - (species)
Caperea marginata
pygmy right whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
2 Mutations:
Coding
Deletion
N
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001942
ENAM
Q9NRM1
Physiology
2 mutations
Physeter catodon
sperm whale - (species)
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
enamelin (ENAM)
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
3 Mutations:
Coding
N
Orycteropus afer
aardvark - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001943
ENAM
Q9NRM1
Physiology
3 mutations
Elephantulus rufescens
East African long-eared elephant shrew - (species)
Orycteropus afer
aardvark - (species) D
enamelin (ENAM)
Orycteropus afer
aardvark - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000279
ESP
Q8RY71
Physiology
Physiology
deletion of 124 bases that eliminates a splice site and 100 nucleotides of the ORF N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001756
ERG3
P32353
Physiology
1-bp deletion in line 34
A980- N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001757
ERG3
P32353
Physiology
60-bp deletion at position 253 in line 35 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG5
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000287
ERG5
P54781
Physiology
60bp deletion N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
eve
Developmental time
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Palsson A; Wesolowska N; Reynisdóttir S ; et al. (2014)
Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.
GP00001986
eve
P06602
Physiology
72bp deletion that removes one of the hb protein-binding sites in the stripe 3+7 enhancer of eve. The deletion also removes half of a putative slp1 protein-binding site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
eve
Drosophila melanogaster
fruit fly - (species)
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
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,
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,
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
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,
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
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
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
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 (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
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';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
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Méndez-Vigo B; Picó FX ; et al. (2012)
Novel natural alleles at FLC and LVR loci account for enhanced vernalization responses in Arabidopsi[...]
1 Additional References
GP00000336
FLC
Q9S7Q7
Physiology
50bp deletion in 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC-2
Flowering time
Coding,
Deletion
N
Brassica oleracea
wild cabbage - (species) D
Domesticated
Linkage Mapping
Okazaki K; Sakamoto K; Kikuchi R ; et al. (2007)
Mapping and characterization of FLC homologs and QTL analysis of flowering time in Brassica oleracea[...]
GP00000339
FLC
Q9S7Q7
Physiology
1bp deletion resulting in frameshift N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea
wild cabbage - (species) D
FLC-2
Brassica oleracea
wild cabbage - (species)
Published - Accepted by Curator
Flowering locus T (FT1)
Flowering time
Coding,
Deletion
N
Helianthus annuus
common sunflower - (species) D
Domesticated
Linkage Mapping
Blackman BK; Strasburg JL; Raduski AR ; et al. (2010)
The role of recently derived FT paralogs in sunflower domestication.
GP00000346
FT
Q9SXZ2
Physiology
1bp deletion; frameshift N
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
Flowering locus T (FT1)
Helianthus annuus
common sunflower - (species)
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
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
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
GP00000357
FRI
P0DH90
Physiology
16bp deletion aa313-318 in exon 2 and premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000360
FRI
P0DH90
Physiology
1bp deletion at 1487 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000366
FRI
P0DH90
Physiology
deletion; E430* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000367
FRI
P0DH90
Physiology
deletion of 6 amino acids; LQLDKE422-427*
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000368
FRI
P0DH90
Physiology
deletion aa 1-12
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000369
FRI
P0DH90
Physiology
deletion resulting in S121* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000370
FRI
P0DH90
Physiology
deletion; AF375-6* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Water use efficiency
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Lovell JT; Juenger TE; Michaels SD ; et al. (2013)
Pleiotropy of FRIGIDA enhances the potential for multivariate adaptation.
GP00000375
FRI
P0DH90
Physiology
Physiology
376 bp deletion within the promoter of the TSU-1 FRI allele
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000379
FUT2
Q10981
Physiology
9.3 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
2 Additional References
GP00000380
FUT2
Q10981
Physiology
10 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (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
gastrin
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001914
GAST
P01350
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
gastrin
Ornithorhynchus anatinus
platypus - (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
Ge-1
Pathogen resistance (sigma virus)
Coding,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Cao C; Magwire MM; Bayer F ; et al. (2016)
A Polymorphism in the Processing Body Component Ge-1 Controls Resistance to a Naturally Occurring Rh[...]
GP00001993
Ge-1
Q9VKK1
Physiology
78bp deletion ( 2L:11097925 ..11098002 in both Release 5 and Release 6 coordinates) in the fifth exon of Ge-1 which reduces the length of the serine-rich linker region by 26 amino acid residues
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ge-1
Drosophila melanogaster
fruit fly - (species)
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
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,
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
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
GLC-1
Xenobiotic resistance (antihelmintics)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Ghosh R; Andersen EC; Shapiro JA ; et al. (2012)
Natural variation in a chloride channel subunit confers avermectin resistance in C. elegans.
GP00000400
glc-1
G5EBR3
Physiology
4aa deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
GLC-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001670
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGRK-Y in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001671
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGK--Y in the third intracellular loop (ICL3) responsible for the intracellular retention and lack of function N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
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.
GP00002354
opn1mw1
Q9W6A5
Physiology
Rh2-1 coding sequence absent from the full genome sequence of the three Sinocyclocheilus species N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002355
opn1mw4
Q9W6A6
Physiology
Rh2-4 coding sequence absent from the full genome sequence of S. anshuiensis but present in the genome of Sinocyclocheilus rhinocerous and S. grahami N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
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.
GP00002356
opn1mw2
Q8AYM8
Physiology
Rh2-2 coding sequence absent from the full genome sequence of the three Sinocyclocheilus species N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
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
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
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
2 Additional References
GP00000427
ABCA2
A0A0S0G7V0
Physiology
10kb deletion N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Chen Y; Chen J ; et al. (2014)
Genome-wide association mapping identifies a new arsenate reductase enzyme critical for limiting ars[...]
GP00000435
HAC1
Q9C5X9
Physiology
1bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Yano M; Katayose Y; Ashikari M ; et al. (2000)
Hd1, a major photoperiod sensitivity quantitative trait locus in rice, is closely related to the Ara[...]
1 Additional References
GP00000441
HD1
Q9FDX8
Physiology
2bp deletion in the putative exon 2 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001722
HD1
Q9FDX8
Physiology
1bp deletion at position 606 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001723
HD1
Q9FDX8
Physiology
1bp deletion at position 321 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001724
HD1
Q9FDX8
Physiology
4bp deletion at position 1089 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum virgatum
(species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001408
CO
Q39057
Physiology
5bp deletion in the coding sequence leading to gene frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum virgatum
(species) D
Heading Date 1 (HD1)
Sorghum virgatum
(species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum
(genus) D
Interspecific
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001409
CO
Q39057
Physiology
80bp deletion in first exon leading to gene frameshift N
Sorghum
(genus)
Sorghum
(genus) D
Heading Date 1 (HD1)
Sorghum
(genus)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000444
HMA3
P0CW78
Physiology
1-bp deletion resulting in a premature stop codon resulting in hypofunctional transporter. This is a high-frequency allele; suggesting the hyper-functional alleles are only selected in Cd-rich soils N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000482
hm2
B8QWA3
Physiology
deletion from exon 2 (nucleotide 420) to beyond the confines of the hm2 gene into an unknown genomic region. N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
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
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
HP1D2
Sex determination (sex ratio distortion)
Coding,
Deletion
N
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Helleu Q; Gérard PR; Dubruille R ; et al. (2016)
Rapid evolution of a Y-chromosome heterochromatin protein underlies sex chromosome meiotic drive.
GP00001467
HP1D2
B4R6K0
Physiology
deletion of 371bp that removes one-half (371bp) of the HP1D2 coding sequence resulting in a frameshift that prevents the translation of the C-terminal chromo shadow domain (CSD) mediating protein N
Drosophila simulans
(species)
Drosophila simulans
(species) D
HP1D2
Drosophila simulans
(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
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
ICARUS1
Plant growth (leaf morphology ; temperature-dependent)
Hypersensitive to DNA damage
2 Mutations:
Coding
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Zhu W; Ausin I; Seleznev A ; et al. (2015)
Natural Variation Identifies ICARUS1, a Universal Gene Required for Cell Proliferation and Growth at[...]
GP00002066
ICA1
A0A0F7PXK5
Physiology
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
ICARUS1
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
Inhibitor of DNA binding 3 (id3)
Lifespan
Coding,
Deletion
Nothobranchius pienaari
(species) D
Interspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001677
ID3
Q02535
Physiology
One evolutionarily conserved aa (E) is deleted in id3 C-terminus
Nothobranchius rachovii
bluefin notho - (species)
Nothobranchius pienaari
(species) D
Inhibitor of DNA binding 3 (id3)
Nothobranchius pienaari
(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)
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)
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,
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,
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,
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,
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,
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,
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
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
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 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
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
lanosterol c14 demethylase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001951
CYP51A1
Q16850
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
lanosterol c14 demethylase
Caenorhabditis elegans
(species)
Published - Accepted by Curator
lanosterol c14 demethylase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001952
CYP51A1
Q16850
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
lanosterol c14 demethylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
lanosterol synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001949
LSS
P48449
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
lanosterol synthase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
lanosterol synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001950
LSS
P48449
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
lanosterol synthase
Caenorhabditis elegans
(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
Lectin-24A
Pathogen resistance (parasitic wasp)
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002655
lectin-24A
Q9VQU4
Physiology
A cis-regulatory polymorphism in the gene Lectin-24A abolishes expression after infection and strongly reduces survival. 21bp indel (c.-171_-151del)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002656
lectin-24A
Q9VQU4
Physiology
a 165bp deletion in the protein coding sequence that results in a shift in the reading frame and a premature stop codon (p.Phe217_Glu273del*) N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Linamarase
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000549
LI
P26205
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
Linamarase
Trifolium repens
white clover - (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
M
Pathogen resistance
Coding,
Deletion
Linum usitatissimum
flax - (species) D
Intraspecific
Linkage Mapping
Anderson PA; Lawrence GJ; Morrish BC ; et al. (1997)
Inactivation of the flax rust resistance gene M associated with loss of a repeated unit within the l[...]
GP00000559
P93244
Physiology
426bp deletion, probably by unequal recombination
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species) D
M
Linum usitatissimum
flax - (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 (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
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,
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 (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,
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,
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
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 (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 (coat)
Coding,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gustafson NA; Gandolfi B; Lyons LA (2017)
Not another type of potato: MC1R and the russet coloration of Burmese cats.
GP00001330
MC1R
Q01726
Morphology
3bp deletion at c.439-441del (p.Phe146del)
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
MC1R
Felis catus
domestic cat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002301
MC1R
Q01726
Morphology
2-bp deletion in the coding sequence c.816_817delCT N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Li W; Sartelet A; Tamma N ; et al. (2016)
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melan[...]
GP00000642
Mlph
Q91V27
Morphology
10bp deletion in exon1 ; c.87_96del p.Glu32Aspfs*1 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Melanophilin (MLPH)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Ishida Y; David VA; Eizirik E ; et al. (2006)
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat[...]
GP00000644
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift c.83delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Melanophilin (MLPH)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
GP00000646
Mlph
Q91V27
Morphology
deletion including intron 7 and exon 8 N
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Allain D ; et al. (2014)
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus [...]
GP00000648
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift N
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00002332
Mlph
Q91V27
Morphology
c.585delG p.L195LfsX123* N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Melanophilin (MLPH)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
metallothionein (MtnA)
Oxidative stress resistance
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Catalán A; Glaser-Schmitt A; Argyridou E ; et al. (2016)
An Indel Polymorphism in the MtnA 3' Untranslated Region Is Associated with Gene Expression Variatio[...]
GP00002018
MtnA
P04357
Physiology
49bp deletion in the MtnA 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
metallothionein (MtnA)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Karlsson EK; Baranowska I; Wade CM ; et al. (2007)
Efficient mapping of mendelian traits in dogs through genome-wide association.
1 Additional References
GP00000657
Mitf
Q08874
Morphology
g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Microphtalmia-associated transcription factor
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (feathers)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Candidate Gene
Minvielle F; Bed'hom B; Coville JL ; et al. (2010)
The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with [...]
1 Additional References
GP00000660
Mitf
Q08874
Morphology
2bp deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Microphtalmia-associated transcription factor
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002322
Mitf
Q08874
Morphology
c.519_523delGTGTC p.C174Sfs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Henkel J; Lafayette C; Brooks SA ; et al. (2019)
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat [...]
GP00002324
Mitf
Q08874
Morphology
~63-kb deletion spanning exons 6-9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Magdesian KG; Tanaka J; Bellone RR (2020)
A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.
GP00002325
Mitf
Q08874
Morphology
8.7 kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor a (MITFA)
Coloration (amelanism)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002379
Q6P0E9NULL
Morphology
"Comparison between homozygous albino and wild-type pigmented fish revealed a cluster of indels and SNPs about 25 kb upstream of mitfa, including a 366-bp deletion in the albino mutant. Genotyping this deletion in ∼1,000 fish revealed that this deletion was strictly correlated with the albino phenotype (supplementary fig. S14 and table S9, Supplementary Material online). These data suggest that the 366-bp deletion is a distant cis-regulatory element and could underlie the albino phenotype."
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
Microphtalmia-associated transcription factor a (MITFA)
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
Deletion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Bai Y; Pavan S; Zheng Z ; et al. (2008)
Naturally occurring broad-spectrum powdery mildew resistance in a Central American tomato accession [...]
GP00000674
MLO
P93766
Physiology
19bp deletion resulting in frameshift N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
MLO1
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Baxter I; Muthukumar B; Park HC ; et al. (2008)
Variation in molybdenum content across broadly distributed populations of Arabidopsis thaliana is co[...]
1 Additional References
GP00000676
MOT1
Q9SL95
Physiology
53bp deletion in promoter
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Mpv17
Coloration (albinism; iridophores)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002358
mpv17
Q5TZ51
Morphology; Physiology
Deletion which removes 16 amino acids in a conserved region. The Mpv17 mutant in zebrafish displays a strong reduction of iridophores throughout larval and adult stages. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
Mpv17
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002264
MRC2
Q9UBG0
Physiology
Morphology
c.2904-2905delAG p.Gly934X N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Macquet A; Ralet MC; Loudet O ; et al. (2007)
A naturally occurring mutation in an Arabidopsis accession affects a beta-D-galactosidase that incre[...]
GP00000681
BGAL6
Q9FFN4
Physiology
44bp deletion in exon 15; from Leu-662 onwards. This deletion causes a frame-shift mutation changing the next 23 amino acids followed by the introduction of a stop codon. N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MYB-FL
Coloration (flower ; UV absorbance)
Coding,
Deletion
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001590
MYB-FL
A0A0S3CVC7
Morphology
A 1-bp deletion in exon 3 causing a frameshift resulting in a truncated protein N
Petunia axillaris
(species)
Petunia exserta
(species) D
MYB-FL
Petunia exserta
(species)
Published - Accepted by Curator
MYB1
Coloration (flower)
Coding,
Deletion
N
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Chang SM; Lu Y; Rausher MD (2005)
Neutral evolution of the nonbinding region of the anthocyanin regulatory gene Ipmyb1 in Ipomoea.
GP00001458
myb1
Q4QS21
Morphology
2 deletions; 6-bp and 19-bp long; the larger produces a frameshift and a premature stop N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
MYB1
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
MYB1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002089
myb1
Q4QS21
Morphology
frameshift mutation caused by a 2 bp deletion N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
MYB1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
myosin heavy chain 16 (MYH16)
Masticatory muscles
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intergeneric or Higher
Candidate Gene
Stedman HH; Kozyak BW; Nelson A ; et al. (2004)
Myosin gene mutation correlates with anatomical changes in the human lineage.
GP00000683
MYH16
Q9H6N6
Morphology
2bp deletion at codon 660 N
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
myosin heavy chain 16 (MYH16)
Homo sapiens
human - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Grobet L; Martin LJ; Poncelet D ; et al. (1997)
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.
2 Additional References
GP00000685
MSTN
O14793
Morphology
nt821 11bp deletion c.821-831delTGAACACTCCA p.Glu275ArgfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Klemetsdal G; Blichfeldt T ; et al. (2009)
A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation[...]
GP00000693
MSTN
O14793
Morphology
1bp deletion resulting in a premature stop codon at position 320 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Racing performance
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Mosher DS; Quignon P; Bustamante CD ; et al. (2007)
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygo[...]
GP00000697
MSTN
O14793
Morphology; Physiology
2bp deletion in the third exon c.939_940delTG p.C313* N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myostatin (MSTN = GDF8)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Chen M; Shelton AM ; et al. (2010)
Transcripts of the nicotinic acetylcholine receptor subunit gene Pxylα6 with premature stop codons a[...]
GP00002652
CHRNA6
Q15825
Physiology
transcripts with premature stop codons N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Experimental Evolution
Candidate Gene
Wang J; Wang X; Lansdell SJ ; et al. (2016)
A three amino acid deletion in the transmembrane domain of the nicotinic acetylcholine receptor α6 s[...]
GP00002653
CHRNA6
Q15825
Physiology
a three amino acid (3-aa) deletion in the fourth transmembrane domain (TM4) of the nAChR α6 subunit N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Rhyzopertha dominica
lesser grain borer - (species) D
Intraspecific
Candidate Gene
Wang HT; Tsai CL; Chen ME (2018)
Nicotinic acetylcholine receptor subunit α6 associated with spinosad resistance in Rhyzopertha domin[...]
GP00002654
CHRNA6
Q15825
Physiology
Three mutations were found in the resistant strain compared with the susceptible one: (1) a 181-bp fragment truncated at the N-terminus resulting in the appearance of a premature stop codon - (2) one missing bp at the position 997 causing a frame-shift mutation and (3) an 87-bp fragment truncated in the TM2 region. N
Rhyzopertha dominica
lesser grain borer - (species)
Rhyzopertha dominica
lesser grain borer - (species) D
nAChR
Rhyzopertha dominica
lesser grain borer - (species)
Published - Accepted by Curator
neurogenin 3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001915
NEUROG3
Q9Y4Z2
Physiology
Absence of the gene in the genome sequence - Neurogenin-3 is a transcription factor whose activity is required for the specification of gastric epithelial cell identity - Deficiency of this factor results in considerably smaller stomachs and absence of gastrin-secreting G cells: somatostatin-secreting D cells and glucagon-secreting A cells N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
neurogenin 3
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
Not much yang (Nmy)
Sex determination (sex ratio distortion)
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Tao Y; Masly JP; Araripe L ; et al. (2007)
A sex-ratio meiotic drive system in Drosophila simulans. I: an autosomal suppressor.
1 Additional References
GP00001970
Physiology
Loss of one of the inverted repeats that is present in the wild-type Dsim\Nmy locus and loss of most of the sequence located between the inverted repeats (except for a 93bp element in reverse orientation).
Drosophila simulans
(species)
Drosophila simulans
(species) D
Not much yang (Nmy)
Drosophila simulans
(species)
Published - Accepted by Curator
nurf-1
Fertility (reproductive timing; egg laying rate)
Lifespan
Growth rate
Diapause (dauer formation)
Coding,
Deletion
Caenorhabditis elegans
(species) D
Domesticated
Linkage Mapping
Large EE; Xu W; Zhao Y ; et al. (2016)
Selection on a Subunit of the NURF Chromatin Remodeler Modifies Life History Traits in a Domesticate[...]
GP00001318
nurf-1
Q6BER5
Physiology
Physiology
Physiology
Physiology
60bp deletion
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
nurf-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000745
Oca2
Q62052
Morphology
Physiology
Deletion of exon 21 N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000746
Oca2
Q62052
Morphology
Physiology
Almost complete deletion of exon 24; + 2 a.a subsitutions at conserved positions - the two point mutations do not drastically affect the function of OCA2 in cell lines suggesting that the exon 24 deletion is the mutation that causes albinism in the Pachón population N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Melanochromis auratus
(species) D
Intraspecific
Candidate Gene
Kratochwil CF; Urban S; Meyer A (2019)
Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an ame[...]
GP00001955
Oca2
Q62052
Morphology
deletion covering a total of 5.4kb including exon 2 and parts of the flanking introns 1 and 2 N
Melanochromis auratus
(species)
Melanochromis auratus
(species) D
Oca2
Melanochromis auratus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002352
Oca2
Q62052
Morphology
1-bp deletion creating a frameshift and a truncated protein (519 amino acids instead of 805). In oca2S ohnolog on chromosome LG31. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Deletion
N
Erythranthe verbenacea
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001762
TPS02
P0CJ43
Physiology
large deletion from the third exon to the last exon N
Erythranthe lewisii
(species)
Erythranthe verbenacea
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe verbenacea
(species)
Published - Accepted by Curator
opaque2 (O2)
Lysine content (endosperm)
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Schmidt RJ; Burr FA; Burr B (1987)
Transposon tagging and molecular analysis of the maize regulatory locus opaque-2.
1 Additional References
GP00000753
O2
P12959
Physiology
1bp deletion predicted to cause premature termination of translation N
Zea mays
(species)
Zea mays
(species) D
opaque2 (O2)
Zea mays
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
Deletion
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000756
OPN1SW
P03999
Physiology
4bp frameshift deletion in exon 1 of SWS1 that results in a premature stop codon N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
opsin - (SWS1)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
N
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000758
OPN1SW
P03999
Physiology
6bp deletion (residues 77-78) + 1bp frameshift deletion N
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000759
OPN1SW
P03999
Physiology
9bp deletion (residues 93-95)
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
Deletion
Lepidopus fitchi
(species) D
Intergeneric or Higher
Candidate Gene
Tada T; Altun A; Yokoyama S (2009)
Evolutionary replacement of UV vision by violet vision in fish.
GP00001704
OPN1SW
P03999
Physiology
deletion of Phe86 (3-bp deletion)
Actinopterygii
ray-finned fishes - (superclass)
Lepidopus fitchi
(species) D
opsin - (SWS1)
Lepidopus fitchi
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Balaenopteridae
rorquals - (family) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000771
OPN1LW
P04000
Physiology
22bp deletion including transciption start N
Cetacea
whales - (order)
Balaenopteridae
rorquals - (family) D
opsin - rhodopsin (LWS)
Balaenopteridae
rorquals - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000772
OPN1LW
P04000
Physiology
44bp frameshift deletion 9 + possibly GT to CT splice site mutation N
Cetacea
whales - (order)
Kogia breviceps
pygmy sperm whale - (species) D
opsin - rhodopsin (LWS)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Physeter catodon
sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000773
OPN1LW
P04000
Physiology
1bp + 28bp frameshift deletions N
Cetacea
whales - (order)
Physeter catodon
sperm whale - (species) D
opsin - rhodopsin (LWS)
Physeter catodon
sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Gene Loss,
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.
GP00002353
OPN1LW
P04000
Physiology
Lws2 coding sequence absent from the full genome sequence N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
opsin - rhodopsin (LWS)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000805
C
Q76B79
Morphology
10bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000806
C
Q76B79
Morphology
2bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsCKX2=Gn1a
Grain yield
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Ashikari M; Sakakibara H; Lin S ; et al. (2005)
Cytokinin oxidase regulates rice grain production.
GP00000807
CKX2
Q4ADV8
Morphology
11bp deletion causing premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsCKX2=Gn1a
Oryza sativa
rice - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001734
LPAR6
P43657
Morphology
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
PAP1
Coloration (anthocyanin accumulation under high-light and low-temperature stress)
Gene Loss,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
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
GP00001232
MYB75
Q9FE25
Physiology
several deletions in the promoter; first intron; second exon and 3' UTR region (putative loss of function) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PAP1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
peel-1
Hybrid incompatibility
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Ailion M; Li J ; et al. (2011)
A novel sperm-delivered toxin causes late-stage embryo lethality and transmission ratio distortion i[...]
1 Additional References
GP00001321
peel-1
G5EGC6
Physiology
1bp deletion creating a frameshift starting at amino acid position 43. Total length of wild-type protein is 174 amino acids. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
peel-1/zeel-1
Hybrid incompatibility
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Rockman MV; Kruglyak L (2008)
Widespread genetic incompatibility in C. elegans maintained by balancing selection.
1 Additional References
GP00001320
peel-1
G5EGC6
Physiology
19kb deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1/zeel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
pepsinogen A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001911
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen A
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001917
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A1
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001924
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A1
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001930
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A1
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001918
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A2
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001925
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A2
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001931
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A2
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001919
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A3
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001926
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A3
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001927
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A3
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001932
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A3
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001913
PGB
Q8SQ41
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen B
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
pepsinogen C
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001912
PGC
P20142
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen C
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
PG
Fruit ripening
Coding,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
GP00001448
PG
B9VRK6
Physiology
a partial deletion of about 90aa in the C-terminal region N
Solanum lycopersicum
tomato - (species)
Capsicum annuum
(species) D
PG
Capsicum annuum
(species)
Published - Accepted by Curator
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000863
PHO5
P00635
Physiology
Deletion. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
phytochrome A-associated F-box protein
Circadian rhythm (phase)
Coding,
Deletion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Müller NA; Wijnen CL; Srinivasan A ; et al. (2016)
Domestication selected for deceleration of the circadian clock in cultivated tomato.
GP00001287
101247753
K4CV85
Physiology
3bp deletion in CDS causing a 'K (lysine) loss in the highly conserved C terminus of EID1
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
phytochrome A-associated F-box protein
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
phytochrome B (PHYB)
Light sensitivity
Coding,
Deletion
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Childs KL; Miller FR; Cordonnier-Pratt MM ; et al. (1997)
The sorghum photoperiod sensitivity gene, Ma3, encodes a phytochrome B.
GP00000872
PHYB
P14713
Physiology
1bp deletion 30bp upstream of the stop codon
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
phytochrome B (PHYB)
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
phytochrome D (PHYD)
Leaf morphology (increased petiole length)
Cotyledon morphology (reduced cotyledon area)
Coloration (anthocyanin accumulation in seedling stems)
Plant size (diminished effect of end-of-day pulse of far red light on hypocotyl elongation)
Plant architecture (decrease in number of rosette leaves at onset of flowering)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Aukerman MJ; Hirschfeld M; Wester L ; et al. (1997)
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome [...]
GP00000874
PHYD
P42497
Morphology
Morphology
Morphology
Physiology
Morphology
14bp deletion causing premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
phytochrome D (PHYD)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Pid3
Pathogen resistance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Chen J; Shi Y; Liu W ; et al. (2011)
A Pid3 allele from rice cultivar Gumei2 confers resistance to Magnaporthe oryzae.
GP00000883
Pid3
C0LMX9
Physiology
1bp deletion resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Pid3
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pitx1
Limb Identity (feathered feet)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Kronenberg Z; Infante CR ; et al. (2016)
Molecular shifts in limb identity underlie development of feathered feet in two domestic avian speci[...]
GP00000885
PITX1
P56673
Morphology
44kb deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Pitx1
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000886
Pitx1
P70314
Morphology
488bp promoter region : deletion 1 ; 5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000887
Pitx1
P70314
Morphology
488bp promoter region : deletion 2 ; 757bp deletion present in the pelvic-reduced BEPA population from Alaska
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000888
Pitx1
P70314
Morphology
488bp promoter region : deletion 3 ; 3.5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000889
Pitx1
P70314
Morphology
488bp promoter region : deletion 4 ; 757 bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000890
Pitx1
P70314
Morphology
488bp promoter region : deletion 5 ; 2 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000891
Pitx1
P70314
Morphology
488bp promoter region : deletion 6 ; 973bp deletion present in the Hump Lake AK pelvic-reduced population (HUMP)
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000892
Pitx1
P70314
Morphology
488bp promoter region : deletion 7 ; 1868bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000893
Pitx1
P70314
Morphology
488bp promoter region : deletion 8 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000894
Pitx1
P70314
Morphology
488bp promoter region : deletion 9 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000911
PMEL
Q98917
Morphology
deletion of amino acids 731-735
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000912
PMEL
Q98917
Morphology
deletion of amino acids 280-284
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
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).
GP00001365
PMEL
P40967
Morphology
c.50_52del p.Leu18del in signal peptide
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
PMEL17
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Jolly RD; Wills JL; Kenny JE ; et al. (2008)
Coat-colour dilution and hypotrichosis in Hereford crossbred calves.
GP00002028
PMEL
Q06154
Morphology
3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
PMEL17
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
poils au dos (pad)
Bristle number (thorax)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Gibert JM; Marcellini S; David JR ; et al. (2005)
A major bristle QTL from a selected population of Drosophila uncovers the zinc-finger transcription [...]
GP00000915
pad
Q9VEW6
Morphology
29bp deletion N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
poils au dos (pad)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ppw-1
Resistance to dsRNA
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Tijsterman M; Okihara KL; Thijssen K ; et al. (2002)
PPW-1, a PAZ/PIWI protein required for efficient germline RNAi, is defective in a natural isolate of[...]
GP00000921
Physiology
1bp deletion resulting in stop codon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
ppw-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
Deletion
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001640
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: 22 domains > 20 domains decreasing 6-fold Genome wide hot window usage in Crossing Over
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin
Hair length (short)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002033
PRL
P01239
Morphology
1-bp deletion in exon 10 that introduces a premature stop codon (p.Leu462*) and loss of 120 C-terminal amino acids from the long isoform of the receptor (ss1067289408; chr20:39136558GC>G) N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Feather (slow-feathering ; delay)
Coding,
Deletion
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Association Mapping
Derks MFL; Herrero-Medrano JM; Crooijmans RPMA ; et al. (2018)
Early and late feathering in turkey and chicken: same gene but different mutations.
GP00002281
PRLR
P16471
Morphology
g.9426018_9426022delTTGGT p.Glu726Aspfs*7 truncated PRLR protein that lacks 98 C-terminal AA ; this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
Prolactin receptor
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
Prolactin receptor
Hair (slick ; short ; thermotolerance)
Thermoregulation (tolerance to warm climate)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002282
PRLR
P16471
Morphology
Physiology
g.39136559delC p.Leu462* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
protoporphyrinogen oxidase (PPO2 = PPX2L)
Xenobiotic resistance (herbicides)
Coding,
Deletion
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt WL; Hager AG; McCormick JS ; et al. (2006)
A codon deletion confers resistance to herbicides inhibiting protoporphyrinogen oxidase.
GP00000929
PPX2L
Q0NZW6
Physiology
3bp deletion; deletion of G210
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
protoporphyrinogen oxidase (PPO2 = PPX2L)
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time
Coding,
Deletion
N
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000930
PRR37
Q0D3B6
Physiology
1bp deletion resulting in frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
PRR37 pseudoresponse regulator protein 37
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time (heading date)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Koo BH; Yoo SC; Park JW ; et al. (2013)
Natural variation in OsPRR37 regulates heading date and contributes to rice cultivation at a wide ra[...]
GP00001633
PRR37
Q0D3B6
Physiology
Nonfunctional allele PRR37-1a: a 8-bp deletion at position 1515 leading to frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
PRR37 pseudoresponse regulator protein 37
Oryza sativa
rice - (species)
Published - Accepted by Curator
PTS/TKD1
Leaf shape
Cis-regulatory,
Deletion
Solanum galapagense
(species) D
Interspecific
Linkage Mapping
Kimura S; Koenig D; Kang J ; et al. (2008)
Natural variation in leaf morphology results from mutation of a novel KNOX gene.
GP00000938
PTS
B2Y2G9
Morphology
1bp deletion at -1232 from start Met
Solanum cheesmaniae
(species)
Solanum galapagense
(species) D
PTS/TKD1
Solanum galapagense
(species)
Published - Accepted by Curator
qSW5
Grain size
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Shomura A; Izawa T; Ebana K ; et al. (2008)
Deletion in a gene associated with grain size increased yields during rice domestication.
1 Additional References
GP00000944
qSW5
F8SPD1
Morphology
1212bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
qSW5
Oryza sativa
rice - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Sweeney MT; Thomson MJ; Cho YG ; et al. (2007)
Global dissemination of a single mutation conferring white pericarp in rice.
GP00000959
Rc
A7J5U6
Morphology
14bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
RCO-A/B (Reduced Complexity)
Leaf shape (simplification)
Gene Loss,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Interspecific
Candidate Gene
Vlad D; Kierzkowski D; Rast MI ; et al. (2014)
Leaf shape evolution through duplication, regulatory diversification, and loss of a homeobox gene.
GP00000962
RCO
A0A023NDU4
Morphology
Gene deletion N
Arabidopsis
(genus)
Arabidopsis thaliana
thale cress - (species) D
RCO-A/B (Reduced Complexity)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Gene Loss,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001247
At4g11040
Q9T010
Physiology
gene loss: -5.7KB at position -4.38KB N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001248
At4g11040
Q9T010
Physiology
-23bp at position 1371 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001249
At4g11040
Q9T010
Physiology
-25bp at position 25 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001250
At4g11040
Q9T010
Physiology
-50bp at position 50; -390bp at position 504 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001251
At4g11040
Q9T010
Physiology
-13bp at position 1440 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001252
At4g11040
Q9T010
Physiology
-2bp at position 1456 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001253
At4g11040
Q9T010
Physiology
-4bp at position 1391 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001254
At4g11040
Q9T010
Physiology
-16bp at position 1054 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001255
At4g11040
Q9T010
Physiology
-19bp at position 594 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001256
At4g11040
Q9T010
Physiology
-2bp at position 606 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001257
At4g11040
Q9T010
Physiology
-4bp at position 11 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001260
At4g11040
Q9T010
Physiology
-1bp at position 498 causing premature STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001261
At4g11040
Q9T010
Physiology
-1bp at position 498 causing premature STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RIM15
Low-glucose adaptation (experimental evolution)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00000989
RIM15
P43565
Physiology
1bp deletion resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RIM15
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ripening inhibitor (rin) = LeMADS-RIN and LeMADS-MC
Fruit ripening
Gene Loss,
Deletion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Vrebalov J; Ruezinsky D; Padmanabhan V ; et al. (2002)
A MADS-box gene necessary for fruit ripening at the tomato ripening-inhibitor (rin) locus.
1 Additional References
GP00000990
MADS-RIN
Q8S4L4
Physiology
2.6kb deletion of the region located between gene LeMADS-RIN and gene LeMADS-MC; resulting in a chimeric mRNA that contains both LeMADS-RIN and LeMADS-MC coding regions.
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
ripening inhibitor (rin) = LeMADS-RIN and LeMADS-MC
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
RME1
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
GP00000994
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RME1 [possible pseudo-replicate of laboratory strain entry]
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000995
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1 [possible pseudo-replicate of laboratory strain entry]
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RNF11
Body size (dwarfism)
Cis-regulatory,
Deletion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Sartelet A; Druet T; Michaux C ; et al. (2012)
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]
GP00002275
RNF11
Q9Y3C5
Morphology
g.95601696A>G c.124-2A>G affecting splicing site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
RNF11
Bos taurus
cattle - (species)
Published - Accepted by Curator
RPS4
Pathogen resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Narusaka M; Shirasu K; Noutoshi Y ; et al. (2009)
RRS1 and RPS4 provide a dual Resistance-gene system against fungal and bacterial pathogens.
1 Additional References
GP00001013
RPS4
Q9XGM3
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RPS4
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Deletion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00002106
Ruby
H6U1F1
Morphology
Recombination between the LTRs of the TE (Tcs1) insertion which led to just one LTR. The single LTR still confers responsiveness to cold temperatures. This recombination event results in enhanced expression of Ruby in Maro (I).
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Gong W; Yan HH; Gao L ; et al. (2014)
Chlorantraniliprole resistance in the diamondback moth (Lepidoptera: Plutellidae).
GP00002609
RyR
Q24498
Physiology
14 amino acid (Q4546-S4559) deletion. RyR transcript levels are lower in resistant strains than in susceptible strains. N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
3 Additional References
GP00001028
GA20OX2
Q0JH50
Morphology
383bp deletion introducing premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
se5
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Izawa T; Oikawa T; Tokutomi S ; et al. (2000)
Phytochromes confer the photoperiodic control of flowering in rice (a short-day plant).
GP00001034
HO1
Q69XJ4
Physiology
1bp deletion in exon 1; causes a frameshift and a premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
se5
Oryza sativa
rice - (species)
Published - Accepted by Curator
SG3/At4g30720
Growth (shoots)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Vlad D; Rappaport F; Simon M ; et al. (2010)
Gene transposition causing natural variation for growth in Arabidopsis thaliana.
GP00001036
PDE327
F4JQE2
Physiology
Premature stop codon at the SG3 locus in Bur-0 (a 1bp deletion in exon four of At4g30720 results in a frame shift; predicting a premature stop codon which terminates the ORF after 5 amino acids); but in this accession this gene has a functional copy at a N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SG3/At4g30720
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
SGK3
Hair (hypotrichosis)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Parker HG; Harris A; Dreger DL ; et al. (2017)
The bald and the beautiful: hairlessness in domestic dog breeds.
GP00002262
Sgk3
Q9ERE3
Morphology
Val96GlyfsTer50 deletion that removes four bases (TTAG) within exon 4 ; creating a new protein sequence for 50 amino acids and a premature stop at amino acid 157 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SGK3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Shattering1 - OsSh1
Seed shattering
Gene Loss,
Deletion
N
Oryza glaberrima
African rice - (species) D
Domesticated
Association Mapping
Wang M; Yu Y; Haberer G ; et al. (2014)
The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication.
GP00001038
YAB2
Q10FZ7
Physiology
45kb deletion resulting in complete removal of OsSh1 in O. glaberrima; resulting in seed abscission phenotype N
Oryza barthii
(species)
Oryza glaberrima
African rice - (species) D
Shattering1 - OsSh1
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
Deletion
N
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001040
YAB2
Q10FZ7
Physiology
2.2kb deletion at the location of exons 2 and 3 N
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species) D
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
SIGLEC17P (pseudogene)
Pathogen resistance
Coding,
Deletion
N
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Wang X; Mitra N; Secundino I ; et al. (2012)
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution.
GP00001053
SIGLEC13
Q64JA4
Physiology
1bp deletion resulting in frame-shift (pseudogenization) N
Primates
(order)
Homo sapiens
human - (species) D
SIGLEC17P (pseudogene)
Homo sapiens
human - (species)
Published - Accepted by Curator
SLB1/2
Pathogen resistance (Root parasitic plant) (root parasitic plant)
Gene Loss,
Deletion
N
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Cardoso C; Zhang Y; Jamil M ; et al. (2014)
Natural variation of rice strigolactone biosynthesis is associated with the deletion of two MAX1 ort[...]
GP00001631
Os01g0700900
M9R6D3
Physiology
deletion of 2 cytochrome P450 genes (Os010700900 & Os01g0701400) N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
SLB1/2
Oryza sativa
rice - (species)
Published - Accepted by Curator
SLC24A
Coloration (eyes)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Mack M; Kowalski E; Grahn R ; et al. (2017)
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
GP00002276
Slc24a5
Q8C261
Morphology
628 bp deletion encompassing all of exon 7 of SLC24A5 (c.875-340_1081+82del) N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC24A
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001059
SLC45A2
Q9UMX9
Morphology
1bp deletion at codon 36; resulting in frameshift and a premature stop codon in exon 1; the corresponding mRNA appears to be degraded by Nonsense-mediated mRNA decay. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Winkler PA; Gornik KR; Ramsey DT ; et al. (2014)
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
GP00002296
SLC45A2
Q9UMX9
Morphology
4081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Caduff M; Bauer A; Jagannathan V ; et al. (2017)
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
GP00002298
SLC45A2
Q9UMX9
Morphology
c.1287delC p.Met430CysfsTer4 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SMAD family member 2 (SMAD2)
Body size (weight)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) 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.
GP00001477
SMAD2
E2RP23
Morphology
9.9 kb deletion 24-kb dowstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
SMAD family member 2 (SMAD2)
Homo sapiens
human - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001067
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001068
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Kerje S; Bed'hom B ; et al. (2011)
The Dark brown plumage color in chickens is caused by an 8.3-kb deletion upstream of SOX10.
1 Additional References
GP00001069
Sox10
Q04888
Morphology
8.3kb deletion upstream of the SOX10 transcription start site
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SOX10
Gallus gallus
chicken - (species)
Published - Accepted by Curator
squalene synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001947
FDFT1
P37268
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
squalene synthase
Caenorhabditis elegans
(species)
Published - Accepted by Curator
squalene synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001948
FDFT1
P37268
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
squalene synthase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
srg-34
Diapause (resistance to dauer-inducing pheromone)
Gene Loss,
Deletion
N
Caenorhabditis briggsae
(species)
Domesticated
Linkage Mapping
McGrath PT; Xu Y; Ailion M ; et al. (2011)
Parallel evolution of domesticated Caenorhabditis species targets pheromone receptor genes.
GP00001074
srg-34
Q9XXQ5
Physiology
33kb deletion N
Caenorhabditis briggsae
(species)
Caenorhabditis briggsae
(species)
srg-34
Caenorhabditis briggsae
(species)
Published - Accepted by Curator
srg-36/37
Diapause (resistance to dauer-inducing pheromone)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species)
Domesticated
Linkage Mapping
McGrath PT; Xu Y; Ailion M ; et al. (2011)
Parallel evolution of domesticated Caenorhabditis species targets pheromone receptor genes.
GP00001075
srg-34
Q9XXQ5
Physiology
6795bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
srg-36/37
Caenorhabditis elegans
(species)
Published - Accepted by Curator
srg-36/37
Diapause (resistance to dauer-inducing pheromone)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species)
Domesticated
Linkage Mapping
McGrath PT; Xu Y; Ailion M ; et al. (2011)
Parallel evolution of domesticated Caenorhabditis species targets pheromone receptor genes.
GP00001076
srg-34
Q9XXQ5
Physiology
4906bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
srg-36/37
Caenorhabditis elegans
(species)
Published - Accepted by Curator
sterol C5 desaturase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001953
ERG3
P32353
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
sterol C5 desaturase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
sterol C5 desaturase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001954
ERG3
P32353
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
sterol C5 desaturase
Caenorhabditis elegans
(species)
Published - Accepted by Curator
str-217
Xenobiotic resistance (insecticide; DEET)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Candidate Gene
Dennis EJ; Dobosiewicz M; Jin X ; et al. (2018)
A natural variant and engineered mutation in a GPCR promote DEET resistance in C. elegans.
GP00001783
str-217
Q9XX85
Physiology
deletion that leads to a predicted frame shift and early stop codon - the predicted resulting protein has only one transmembrane domain instead of the 7 transmembrane domains - 138-bp deletion in exon 2 and 3 and intervening intron according to https://www.wormbase.org/species/c_elegans/variation/WBVar02076179#02-45-3 and email from Emily Dennis from 9 March 2019 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
str-217
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
Deletion
Schistosoma mansoni
(species) D
Intraspecific
Linkage Mapping
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001470
SULT-OR
G4VLE5
Physiology
E142del
Schistosoma mansoni
(species)
Schistosoma mansoni
(species) D
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
Svb/ovo
Trichome pattern (larva)
9 Mutations:
Cis-regulatory
Drosophila sechellia
(species) D
Interspecific
Linkage Mapping
McGregor AP; Orgogozo V; Delon I ; et al. (2007)
Morphological evolution through multiple cis-regulatory mutations at a single gene.
1 Additional References
GP00001085
ovo
P51521
Morphology
9 mutations
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Drosophila sechellia
(species) D
Svb/ovo
Drosophila sechellia
(species)
Published - Accepted by Curator
T-box transcription factor (TBX3)
Coloration (coat)
Cis-regulatory,
Deletion
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Imsland F; McGowan K; Rubin CJ ; et al. (2016)
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
GP00001462
TBX3
O15119
Morphology
missing sequence of nearly contiguous 1609bp and 8 bp segments
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
T-box transcription factor (TBX3)
Equus caballus
horse - (species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001092
TAC1
A7IZW4
Physiology
1a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001093
TAC1
A7IZW4
Physiology
7a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001100
t
Q9W369
Morphology
san MSE del30 (30bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001101
t
Q9W369
Morphology
san MSE del212 (212bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailurus fulgens
lesser panda - (species) D
Interspecific
Candidate Gene
Hu Y; Wu Q; Ma S ; et al. (2017)
Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas.
GP00001415
Tas1r1
Q99PG6
Physiology
1bp deletion (deletion of a C) in the sixth exon; N
Ursus maritimus
polar bear - (species)
Ailurus fulgens
lesser panda - (species) D
TAS1R1
Ailurus fulgens
lesser panda - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailuropoda melanoleuca
giant panda - (species) D
Interspecific
Candidate Gene
Li R; Fan W; Tian G ; et al. (2010)
The sequence and de novo assembly of the giant panda genome.
2 Additional References
GP00001416
Tas1r1
Q99PG6
Physiology
pseudogene due to three indel mutations in the third and sixth exons. The giant panda has one 2-bp insertion on the third exon and two deletions (6-bp and 4-bp) on the sixth exon, N
Ursus maritimus
polar bear - (species)
Ailuropoda melanoleuca
giant panda - (species) D
TAS1R1
Ailuropoda melanoleuca
giant panda - (species)
Published - Accepted by Curator
TAS1R2
Taste sensitivity (sugar)
Coding,
Deletion
N
Felidae
cat family - (family) D
Intergeneric or Higher
Candidate Gene
Li X; Li W; Wang H ; et al. (2005)
Pseudogenization of a sweet-receptor gene accounts for cats' indifference toward sugar.
1 Additional References
GP00001109
TAS1R2
Q8TE23
Physiology
247bp deletion in exon 3 and stop codons in exons 4 and 6. N
Mammalia
mammals - (class)
Felidae
cat family - (family) D
TAS1R2
Felidae
cat family - (family)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002290
Tbxt
P20293
Morphology
c.1169delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002291
Tbxt
P20293
Morphology
c.1199delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002292
Tbxt
P20293
Morphology
c.998delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
THOUSAND-GRAIN WEIGHT 6 (TGW6)
Grain yield
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Ishimaru K; Hirotsu N; Madoka Y ; et al. (2013)
Loss of function of the IAA-glucose hydrolase gene TGW6 enhances rice grain weight and increases yie[...]
GP00001126
TGW6
Q69U01
Morphology
-1bp at +313 resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
THOUSAND-GRAIN WEIGHT 6 (TGW6)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Chen W; Liu Y; Li H ; et al. (2015)
Intronic deletions of tva receptor gene decrease the susceptibility to infection by avian sarcoma an[...]
GP00002258
tva
Q6JBY7
Physiology
c.502_511delCGCTCACCCC N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Chen W; Liu Y; Li H ; et al. (2015)
Intronic deletions of tva receptor gene decrease the susceptibility to infection by avian sarcoma an[...]
GP00002259
tva
Q6JBY7
Physiology
c.502_516delCGCTCACCCCGCCCC N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Reinišová M; Plachý J; Trejbalová K ; et al. (2012)
Intronic deletions that disrupt mRNA splicing of the tva receptor gene result in decreased susceptib[...]
GP00002260
tva
Q6JBY7
Physiology
c.506-515del10 ; splicing N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Reinišová M; Plachý J; Trejbalová K ; et al. (2012)
Intronic deletions that disrupt mRNA splicing of the tva receptor gene result in decreased susceptib[...]
GP00002261
tva
Q6JBY7
Physiology
c.507-511del5 ; splicing N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Tobita-Teramoto T; Jang GY; Kino K ; et al. (2000)
Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-deltaGACTGG817) at a copper-bindi[...]
GP00002308
Tyr
P11344
Morphology
c.817_822del6 p.237-238delDW
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Deletion
Mustela putorius furo
domestic ferret - (subspecies) D
Domesticated
Linkage Mapping
Blaszczyk WM; Distler C; Dekomien G ; et al. (2007)
Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo).
GP00002310
Tyr
P11344
Morphology
Deletion of exon 4 as detected by Southern Blot
Mustela putorius furo
domestic ferret - (subspecies)
Mustela putorius furo
domestic ferret - (subspecies) D
tyrosinase (TYR)
Mustela putorius furo
domestic ferret - (subspecies)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Imes DL; Geary LA; Grahn RA ; et al. (2006)
Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
GP00002312
Tyr
P11344
Morphology
a cytosine deletion in TYR at position 975 in exon 2 N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
Deletion
Megaptera novaeangliae
humpback whale - (species) D
Intraspecific
Candidate Gene
Polanowski AM; Robinson-Laverick SM; Paton D ; et al. (2012 Jan-Feb)
Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).
GP00002314
Tyr
P11344
Morphology
(264 del C) at codon 88
Megaptera novaeangliae
humpback whale - (species)
Megaptera novaeangliae
humpback whale - (species) D
tyrosinase (TYR)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat; albinism)
Coding,
Deletion
N
Nyctereutes procyonoides viverrinus
(subspecies) D
Intraspecific
Candidate Gene
Mae Y; Nagara K; Miyazaki M ; et al. (2020)
Complex intragene deletion leads to oculocutaneous albinism in tanuki (Japanese raccoon dog).
GP00002374
Tyr
P11344
Morphology
"We examined the structure and nucleotide sequence of TYR in an albino tanuki and found that the third exon was removed due to a deletion of approximately 11 kb. In addition, two nonsynonymous nucleotide substitutions were found in the fifth exon. These mutations are possible causes of the albino phenotype; however, the order of occurrence is unclear. Even if the 11-kb deletion was not the first of these mutations, it is considered to cause a total loss of the tyrosinase function because the third exon carries codons for one of the two copper-binding sites of tyrosinase and these sites are essential for the enzyme function. Intriguingly, the deletion was not a simple removal of an 11-kb segment: an internal portion was retained as a segment in the reverse orientation. We propose possible formation processes for this mutation that involve multiple DNA scission events, or an inversion followed by a deletion." N
Nyctereutes procyonoides viverrinus
(subspecies)
Nyctereutes procyonoides viverrinus
(subspecies) D
tyrosinase (TYR)
Nyctereutes procyonoides viverrinus
(subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001146
Tyrp1
P07147
Morphology
deletion of a proline residue in exon 5 (345delP)
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
Deletion
N
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001151
Tyrp1
P07147
Morphology
7-bp deletion 411-418del resulting in null allele N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
tyrosinase-related protein 1 (TYRP1)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Wu X; Zhang Y; Shen L ; et al. (2016)
A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color[...]
GP00001327
Tyrp1
P07147
Morphology
g.17599_17604del 6bp deletion in exon 8 resulting in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein ; c.1484_1489del6 p.Met495_Gly496del
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Paris JM; Letko A; Häfliger IM ; et al. (2019)
Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.
GP00002238
Tyrp1
P07147
Morphology
c.86_87delGA p.(Glu29ValfsTer5) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Ubiquitin-specific peptidase 46 (Usp46)
Escape behavior (immobility in inescapable situations)
Coding,
Deletion
Mus musculus
house mouse - (species) D
Intraspecific
Linkage Mapping
Tomida S; Mamiya T; Sakamaki H ; et al. (2009)
Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and for[...]
GP00001159
Usp46
P62069
Behavior
1a.a. deletion
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
Ubiquitin-specific peptidase 46 (Usp46)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
UGT86 (Bm-UGT10286)
Coloration (cocoon)
Gene Loss,
Deletion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Daimon T; Hirayama C; Kanai M ; et al. (2010)
The silkworm Green b locus encodes a quercetin 5-O-glucosyltransferase that produces green cocoons w[...]
1 Additional References
GP00001160
Bm-UGT10286
D6RUU6
Physiology
38kb gene deletion N
Bombyx
(genus)
Bombyx mori
domestic silkworm - (species) D
UGT86 (Bm-UGT10286)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Ugt86Dd
Xenobiotic resistance (nicotine ; larval stage)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Marriage TN; King EG; Long AD ; et al. (2014)
Fine-mapping nicotine resistance loci in Drosophila using a multiparent advanced generation inter-cr[...]
1 Additional References
GP00001406
Ugt86Dd
Q9VGT8
Physiology
22-bp frameshift deletion in Ugt86Dd - CRISPR-induced deletions in Ugt86Dd lead to a large reduction in resistance N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ugt86Dd
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Uncoupling protein 1 (UCP1)
Thermoregulation (brown adipose tissue)
Coding,
Deletion
N
Sus
(genus) D
Intergeneric or Higher
Candidate Gene
Berg F; Gustafson U; Andersson L (2006)
The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: a genetic explanation for poor[...]
GP00001162
Ucp1
P12242
Physiology
deletion of exons 3 to 5 N
Mammalia
mammals - (class)
Sus
(genus) D
Uncoupling protein 1 (UCP1)
Sus
(genus)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Deletion
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Trevaskis B; Bagnall DJ; Ellis MH ; et al. (2003)
MADS box genes control vernalization-induced flowering in cereals.
GP00001184
VRN1
Q8L3W1
Physiology
Deletion
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
VRN1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
VRN2
Flowering time
Gene Loss,
Deletion
N
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Yan L; Loukoianov A; Blechl A ; et al. (2004)
The wheat VRN2 gene is a flowering repressor down-regulated by vernalization.
GP00001186
VRN2
Q8W5B1
Physiology
Large deletion N
Hordeum vulgare
(species)
Hordeum vulgare
(species)
VRN2
Hordeum vulgare
(species)
Published - Accepted by Curator
VRN2
Flowering time
Gene Loss,
Deletion
N
Triticum monococcum
(species) D
Domesticated
Candidate Gene
Yan L; Loukoianov A; Blechl A ; et al. (2004)
The wheat VRN2 gene is a flowering repressor down-regulated by vernalization.
GP00001188
VRN2
Q8W5B1
Physiology
Large deletion; complete deletion of ZCCT1 and ZCCT2=VRN2 genes N
Triticum monococcum
(species)
Triticum monococcum
(species) D
VRN2
Triticum monococcum
(species)
Published - Accepted by Curator
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001189
Vrs1
A1IHK8
Morphology
Morphology
1bp deletion resulting in frameshift N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Kobayashi S; Goto-Yamamoto N; Hirochika H (2004)
Retrotransposon-induced mutations in grape skin color.
1 Additional References
GP00001194
VvmybA1
Q6L973
Morphology
Gret1 retrotransposon deletion; leaving behind its 3'-LTR flanked by 5 bp of a duplicated target site
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Ferreira V; Matus JT; Pinto-Carnide O ; et al. (2019)
Genetic analysis of a white-to-red berry skin color reversion and its transcriptomic and metabolic c[...]
GP00002096
VvmybA1
Q6L973
Morphology
partial excision of the Gret1 retrotransposon from the promoter region of the MYBA1 anthocyanin regulator - associated with white-to-red berry skin color reversion
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Other,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Azuma A; Kobayashi S; Goto-Yamamoto N ; et al. (2009)
Color recovery in berries of grape (Vitis vinifera L.) 'Benitaka', a bud sport of 'Italia', is cause[...]
GP00002099
VvmybA1
Q6L973
Morphology
homologous recombination between the non-functional allele of MybA1 and the truncated MybA3 gene at their promoter region, resulting in the recovery of MybA1 genomic integrity (and therefore its transcription) on cv. ‘Benitaka’. The VvmybA1 locus of 'Benitaka' is heterozygous for the VvmybA1a allele (non-functional) and a novel VvmybA1(BEN) allele. VvmybA1(BEN) restores VvmybA1 transcripts.
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA2
Coloration (fruit)
2 Mutations:
Coding
N
Vitis vinifera
wine grape - (species) D
Domesticated
Linkage Mapping
Fournier-Level A; Le Cunff L; Gomez C ; et al. (2009)
Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: [...]
GP00001195
VvmybA2
Q6L9M8
Morphology
2 mutations
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA2
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Deletion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Domon E; Fuijita M; Ishikawa N (2002)
The insertion/deletion polymorphisms in the waxy gene of barley genetic resources from East Asia.
GP00001197
waxy
Q8L699
Physiology
403-bp deletion spanning from position –129 bp to position +274 relative to the deduced starting point of transcription in the barley waxy gene and
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
Waxy /GBSS
Hordeum vulgare
(species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Deletion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001203
waxy
Q8L699
Physiology
2.4kb deletion (intron 1)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
WDR1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002090
InWDR1
Q1JUZ7
Morphology
frameshift mutation caused by a 7 bp insertion in the gene encoding a WDR transcriptional regulator N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
WDR1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Deletion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002403
wg
P09615
Morphology
A specific large deletion (271 kb) is present in the 3′-flanking region of Wnt1. Wnt1 expression is significantly higher in the epidermis of heterozygous LC (LC/+) mutants than in normal strains (+/+).
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Xmrk
Hybrid incompatibility (melanoma)
Gene Loss,
Deletion
N
Xiphophorus malinche
highland swordtail - (species) D
Interspecific
Association Mapping
Powell DL; García-Olazábal M; Keegan M ; et al. (2020)
Natural hybridization reveals incompatible alleles that cause melanoma in swordtail fish.
GP00002137
xmrk
P13388
Physiology
Loss of Xmrk in several Xiphophorus species N
Xiphophorus birchmanni
sheepshead swordtail - (species)
Xiphophorus malinche
highland swordtail - (species) D
Xmrk
Xiphophorus malinche
highland swordtail - (species)
Published - Accepted by Curator
zfl2
Flowering time
Coding,
Deletion
Zea mays
(species) D
Domesticated
Linkage Mapping
Buckler ES; Holland JB; Bradbury PJ ; et al. (2009)
The genetic architecture of maize flowering time.
GP00001226
zfl2
Q5Q1L6
Physiology
16a.a. deletion
Zea mays
(species)
Zea mays
(species) D
zfl2
Zea mays
(species)
Published - Accepted by Curator
zic1/zic4
Fin morphology (skeleton; caudal fin)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002385
Zic1
P46684
Morphology
"We further sequenced the genomes of both homozygous single- and double-tail fish and found in double tail no large sequence variation except for a ∼180-bp deletion ∼15-kb downstream of zic4 (fig. 4C and supplementary fig. S19a, Supplementary Material online). This deletion was located in a cluster of CNEs and coincided with predicted CNE.006008 (supplementary fig. S19b, Supplementary Material online)."
"We observed that the wild-type ST allele significantly enhanced green fluorescent protein (GFP) expression in embryos at 24 hpf, when both zic1 and zic4 show differential expression between double-tail and wild-type fish (Moriyama et al. 2012), whereas no visible GFP expression was detected for the st allele (fig. 4E and supplementary table S11, Supplementary Material online). The efficiency of the two alleles as candidate enhancers was further examined using a Dual-Luciferase Reporter Assay, which showed that the ST allele enhanced luciferase expression by ∼10× relative to st allele in Singapore grouper embryonic cell line (fig. 4F)."
"Finally, we deleted this enhancer using the CRISPR-Cas9 system in fighting fish. Considering the efficiency of tested gRNAs and the cluster of CNEs that could have unpredicted functions, we limited the modification to the CNE.006008 region and did not involve the other CNEs (supplementary fig. S20, Supplementary Material online). Genetic analysis revealed that none of these fish had completely deleted CNE.006008, suggesting nonsimultaneous cutting at multiple targeted gRNA positions. These mosaic fish (n = 7) had significantly more fin rays than the noninjected controls (P < 0.01; fig. 4G). "
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
zic1/zic4
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator