Gephebase

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Your research retrieved 208 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Main Curator	Edit Gene-GePhe	Taxon B	Status	Date of Sent Email
Agouti	Coloration (coat)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Girardot M; Guibert S; Laforet MP ; et al. (2006) The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregula[...]	GP00000059	Asip Q03288	Morphology	LINE element insertion in 5' region of gene; over expression of alternative splice forms	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Agouti	Bos taurus cattle - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Rieder S; Taourit S; Mariat D ; et al. (2001) Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000062	Asip Q03288	Morphology	11bp deletion in exon 2: g.2174_2184del11 c.191_201del N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Agouti	Equus caballus horse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000063	Asip Q03288	Morphology	Deletion of nt 123-124 N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		Agouti	Felis catus domestic cat - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Panthera pardus leopard - (species) D	Intraspecific	Candidate Gene	Schneider A; David VA; Johnson WE ; et al. (2012) How the leopard hides its spots: ASIP mutations and melanism in wild cats.	GP00000065	Asip Q03288	Morphology	nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N	Panthera pardus leopard - (species)	Panthera pardus leopard - (species) D		Agouti	Panthera pardus leopard - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP	Catopuma temminckii Asiatic golden cat - (species)	Intraspecific	Candidate Gene	Schneider A; David VA; Johnson WE ; et al. (2012) How the leopard hides its spots: ASIP mutations and melanism in wild cats.	GP00000066	Asip Q03288	Morphology	C128W (384C>G)	Catopuma temminckii Asiatic golden cat - (species)	Catopuma temminckii Asiatic golden cat - (species)		Agouti	Catopuma temminckii Asiatic golden cat - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, Deletion N	Vulpes vulpes red fox - (species) D	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.	GP00000067	Asip Q03288	Morphology	166 bp deletion in exon 1 N	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D		Agouti	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Leopardus colocolo Colocolo - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001731	Asip Q03288	Morphology	Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N	Leopardus colocolo Colocolo - (species)	Leopardus colocolo Colocolo - (species) D		Agouti	Leopardus colocolo Colocolo - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Leopardus guigna Kodkod - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001732	Asip Q03288	Morphology	Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N	Leopardus guigna Kodkod - (species)	Leopardus guigna Kodkod - (species) D		Agouti	Leopardus guigna Kodkod - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	5 Mutations:	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Association Mapping	Linnen CR; Poh YP; Peterson BK ; et al. (2013) Adaptive evolution of multiple traits through multiple mutations at a single gene. 1 Additional References Barrett RDH; Laurent S; Mallarino R (2019) Linking a mutation to survival in wild mice.	GP00001974	Asip Q03288	Morphology	5 mutations	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)		Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Gene Loss, Deletion N	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Candidate Gene	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00001975	Asip Q03288	Morphology	125kb deletion ; recessive mutation N	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)		Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Association Mapping	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00001976	Asip Q03288	Morphology	recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)		Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP	Sciurus niger fox squirrel - (species) D	Intraspecific	Candidate Gene	McRobie HR; Moncrief ND; Mundy NI (2019) Multiple origins of melanism in two species of North American tree squirrel (Sciurus).	GP00002335		Morphology	Gly121Cys	Sciurus niger fox squirrel - (species)	Sciurus niger fox squirrel - (species) D		Agouti	Sciurus niger fox squirrel - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Cis-regulatory, Insertion	Mus musculus molossinus Japanese wild mouse - (subspecies) D	Intraspecific	Candidate Gene	Tanave A; Imai Y; Koide T (2019) Nested retrotransposition in the East Asian mouse genome causes the classical nonagouti mutation.	GP00002386	Asip Q03288	Morphology		Mus musculus molossinus Japanese wild mouse - (subspecies)	Mus musculus molossinus Japanese wild mouse - (subspecies) D		Agouti	Mus musculus molossinus Japanese wild mouse - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Candidate Gene	Berryere TG; Kerns JA; Barsh GS ; et al. (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000060	Asip Q03288	Morphology	c.244G>T + 248G>A ; p.A82S + p.R83H A82S and R83H in Linkage Disequilibrium a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence It is unknown if one or both substitutions alter Agouti protein function	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies)		Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Kerns JA; Newton J; Berryere TG ; et al. (2004) Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. 1 Additional References Berryere TG; Kerns JA; Barsh GS (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000061	Asip Q03288	Morphology	R96C ; g.23393552C>T c.286C>T p.R96C	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...] 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00001324	Asip Q03288	Morphology	~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, SNP	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001325	Asip Q03288	Morphology	unidentified promoter silencing	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001331	Asip Q03288	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)		Agouti (ASIP)	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001334	Asip Q03288	Morphology	Ile55Thr	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D		Agouti (ASIP)	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2015) A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]	GP00001335	Asip Q03288	Morphology	c.349T>C p.Cys117Arg	Equus asinus ass - (species)	Equus asinus ass - (species) D		Agouti (ASIP)	Equus asinus ass - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dreger DL; Schmutz SM (2011 Sep-Oct) A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.	GP00001336	Asip Q03288	Morphology	A 239bp SINE insertion in reverse orientation in intron 1	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat) Lifespan	2 Mutations: Coding N	Ovis aries sheep - (species) D	Intraspecific	Linkage Mapping	Gratten J; Pilkington JG; Brown EA ; et al. (2010) The genetic basis of recessive self-colour pattern in a wild sheep population. 1 Additional References Gratten J; Pilkington JG; Brown EA (2012) Selection and microevolution of coat pattern are cryptic in a wild population of sheep.	GP00001356	Asip Q03288	Morphology Physiology	2 mutations	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Forestier L; Allain D ; et al. (2010) Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...] 1 Additional References Sakuma Y; Matsunami M; Takada T (2019) Multiple Conserved Elements Structuring Inverted Repeats in the Mammalian Coat Color-Related Gene As[...]	GP00001968	Asip Q03288	Morphology	an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	D	Intraspecific	Candidate Gene	Miller SM; Guthrie AJ; Harper CK (2016) Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]	GP00001977	Asip Q03288	Morphology	recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N		D		Agouti (ASIP)		Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	Camelus dromedarius Arabian camel - (species) D	Domesticated	Candidate Gene	Almathen F; Elbir H; Bahbahani H ; et al. (2018) Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel. 1 Additional References Alshanbari F; Castaneda C; Juras R (2019) Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Anal[...]	GP00001978	Asip Q03288	Morphology	1-bp deletion at position 23 resulting in frameshift N	Camelus dromedarius Arabian camel - (species)	Camelus dromedarius Arabian camel - (species) D		Agouti (ASIP)	Camelus dromedarius Arabian camel - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus americanus snowshoe hare - (species) D	Intraspecific	Association Mapping	Jones MR; Mills LS; Alves PC ; et al. (2018) Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.	GP00002060	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus americanus snowshoe hare - (species)	Lepus americanus snowshoe hare - (species) D		Agouti (ASIP)	Lepus americanus snowshoe hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus timidus Mountain hare - (species) D	Intraspecific	Association Mapping	Giska I; Farelo L; Pimenta J ; et al. (2019) Introgression drives repeated evolution of winter coat color polymorphism in hares.	GP00002061	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus timidus Mountain hare - (species)	Lepus timidus Mountain hare - (species) D		Agouti (ASIP)	Lepus timidus Mountain hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Morgan HD; Sutherland HG; Martin DI ; et al. (1999) Epigenetic inheritance at the agouti locus in the mouse.	GP00002107	Asip Q03288	Morphology	insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti gene (A). This activates transcription and causes ectopic expression of agouti protein; resulting in yellow fur; obesity; diabetes and increased susceptibility to tumours. The pleiotropic effects of ectopic agouti expression are presumably due to effects of the paracrine signal on other tissues.	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D		Agouti (ASIP)	Mus musculus house mouse - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Chandramohan B; Renieri C; La Manna V ; et al. (2013) The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]	GP00002336	Asip Q03288	Morphology	p.R98C likely affecting conformation in a cysteine-rich domain	Vicugna pacos alpaca - (species)	Vicugna pacos alpaca - (species) D		Agouti (ASIP)	Vicugna pacos alpaca - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Bubalus bubalis water buffalo - (species) D	Domesticated	Association Mapping	Liang D; Zhao P; Si J ; et al. (2021) Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]	GP00002370	Asip Q03288	Morphology	"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D		Agouti (ASIP)	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002381	Asip Q03288	Morphology	"The white Capra Sempione carried one copy of the AWt allele, which is commonly found in Saanen and Appenzell goats. AWt involves a triplication of ~155 kb comprising the coding sequence of the ASIP, AHCY and ITCH genes (Fontanesi et al. 2009; Henkel et al. 2019). Closer inspection of the short-read alignments revealed that the sequenced Capra Sempione had acquired additional smaller structural alterations compared to the original AWt allele, which comprised a duplication of 1053 bp inserted into a 10 194 bp deletion of the original AWt CNV allele (Supplementary Figure S1)."	Capra hircus goat - (species)	Capra hircus goat - (species) D		Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002382	Asip Q03288	Morphology	"The greyish Grüenochte goat carried one copy of the Apc allele, which causes the characteristic black and white pattern of Swiss Peacock goats (Henkel et al. 2019). The Apc allele consists of a central quadruplication of ~45 kb with triplicated adjacent flanking regions comprising ~28 kb and ~42 kb, respectively."	Capra hircus goat - (species)	Capra hircus goat - (species) D		Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001332	BCO2 Q9BYV7	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)		BCO2 = beta-carotene oxygenase 2	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
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 Anderson TM; vonHoldt BM; Candille SI (2009) Molecular and evolutionary history of melanism in North American gray wolves. Schweizer RM; Durvasula A; Smith J (2018) Natural Selection and Origin of a Melanistic Allele in North American Gray Wolves.	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
coatomer protein complex subunit alpha (COPA)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Henegar C; Liao X ; et al. (2015) Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]	GP00001329	COPA P53621	Morphology	c.C>T p.Arg160Cys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		coatomer protein complex subunit alpha (COPA)	Bos taurus cattle - (species)	Published - Accepted by Curator
CORIN	Coloration (coat)	Coding, SNP	Panthera tigris tiger - (species) D	Intraspecific	Linkage Mapping	Xu X; Dong GX; Schmidt-Küntzel A ; et al. (2017) The genetics of tiger pelage color variations.	GP00002169	Corin Q9Z319	Morphology	c.1759C >T p.H587Y	Panthera tigris tiger - (species)	Panthera tigris tiger - (species) D		CORIN	Panthera tigris tiger - (species)	Published - Accepted by Curator
EDN3	Coloration (coat) Coloration (eyes) Hearing (loss)	Unknown, Unknown	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Fan R; Gu Z; Guang X ; et al. (2020) Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca.	GP00002182	EDN3 P14138	Morphology Morphology Physiology	Introgression from alpacas to lamas and clear correlation wit phenotype but no information on the mutation(s)	Vicugna vicugna vicugna - (species)	Lama glama llama - (species) D Vicugna pacos alpaca - (species) D		EDN3	Lama glama llama - (species) Vicugna pacos alpaca - (species)	Published - Accepted by Curator
Endothelin receptor B	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metallinos DL; Bowling AT; Rine J (1998) A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...] 2 Additional References Santschi EM; Purdy AK; Valberg SJ (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Yang GC; Croaker D; Zhang AL (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndr[...]	GP00000269	Ednrb P48302	Morphology	Ile118Lys	Equus caballus horse - (species)	Equus caballus horse - (species) D		Endothelin receptor B	Equus caballus horse - (species)	Published - Accepted by Curator
GPR22	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Batcher K; Varney S; Affolter VK ; et al. (2022) An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.	GP00002389	GPR22 Q99680	Morphology	A SNNL1 retrocopy element is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. It is likely disrupting regulation of the CPR22 gene, resulting in higher gene expression and atypical expression in the skin.	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		GPR22	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Durkin K; Coppieters W; Drögemüller C ; et al. (2012) Serial translocation by means of circular intermediates underlies colour sidedness in cattle.	GP00000514	Kit P05532	Morphology	Copy Number Variation of <600kb segments encompassing KIT	Bos taurus cattle - (species)	Bos taurus cattle - (species)		Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Brooks SA; Bailey E (2005) Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.	GP00000515	Kit P05532	Morphology	T->A in intron 16; leads to skipping of exon 17	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00000516	Kit P05532	Morphology	c.2151C>G pY717* N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000517	Kit P05532	Morphology	full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Indel	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	Montague MJ; Li G; Gandolfi B ; et al. (2014) Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]	GP00000518	Kit P05532	Morphology	Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn c. 1035_1036delinsCA GAGCAY > GACAAY	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000519	Kit P05532	Morphology	Excision of the full-length FERV1 elevement leaving the two LTR residues	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	2 Mutations:	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. 3 Additional References Rubin CJ; Megens HJ; Martinez Barrio A (2012) Strong signatures of selection in the domestic pig genome. Sun G; Liang X; Qin K (2020) Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Us[...] Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00000520	Kit P05532	Morphology	2 mutations	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Vulpes vulpes red fox - (species) D	Domesticated	Linkage Mapping	Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015) Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.	GP00000521	Kit P05532	Morphology	splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D		Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00001326	Kit P05532	Morphology	4.3kb duplication (DUP2) located about 100 kb upstream of KIT	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Unknown, Unknown	Vulpes vulpes red fox - (species) D	Domesticated	Association Mapping	Kukekova AV; Johnson JL; Kharlamova AV ; et al. (2016) Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containi[...]	GP00001328	Kit P05532	Morphology	unknown	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D		Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00001344	Kit P05532	Morphology	c.1789G>A p.G597R	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Brenig B; Beck J; Floren C ; et al. (2013) Molecular genetics of coat colour variations in White Galloway and White Park cattle.	GP00001345	Kit P05532	Morphology	duplication and aberrant insertion on chromosome 29	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Other, SNP	Vulpes lagopus Arctic fox - (species) D	Domesticated	Candidate Gene	Yan SQ; Hou JN; Bai CY ; et al. (2014) A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white[...]	GP00002192	Kit P05532	Morphology	dominant white coat colour of blue fox results from an exon 12 skipping caused by a c.1867+1G>T substitution in the first nucleotide of intron 12 of the KIT gene	Vulpes lagopus Arctic fox - (species)	Vulpes lagopus Arctic fox - (species) D		Kit (type III receptor protein-tyrosine kinase)	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002196	Kit P05532	Morphology	the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle)	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Küttel L; Letko A; Häfliger IM ; et al. (2019) A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. 1 Additional References Artesi M; Tamma N; Deckers M (2020) Colour-sidedness in Gloucester cattle is associated with a complex structural variant impacting regu[...]	GP00002197	Kit P05532	Morphology	Complex chromosomal rearragements including a ~310-kb duplication	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002198	Kit P05532	Morphology	c.706A>T p.K236* N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002199	Kit P05532	Morphology	c.1805C>T p.A602V	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002200	Kit P05532	Morphology	c.1960G>A p.G654R	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002201	Kit P05532	Morphology	c.2222-1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002202	Kit P05532	Morphology	c.1126_1129delGAAC p.E376FfsX3 N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002203	Kit P05532	Morphology	c.2684+1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002204	Kit P05532	Morphology	c.338-1G>C (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002205	Kit P05532	Morphology	c.2193delG p.T732QfsX9 N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002206	Kit P05532	Morphology	c.856G>A p.G286R	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002207	Kit P05532	Morphology	c.1597T>C p.C533R	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002208	Kit P05532	Morphology	c.2021T>C p.L674P	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002209	Kit P05532	Morphology	c.2001A>T p.E667D	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002210	Kit P05532	Morphology	c.2472+5G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002211	Kit P05532	Morphology	c.2489A>T p.K830I	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002212	Kit P05532	Morphology	c.2392_2445del p.H798_N815del N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002213	Kit P05532	Morphology	c.2045G>A p.R682H	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002214	Kit P05532	Morphology	c.1322A>G p.Y441C	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002215	Kit P05532	Morphology	c.1346 + 1G>A (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Jagannathan V; Rieder S ; et al. (2015) A novel KIT variant in an Icelandic horse with white-spotted coat colour.	GP00002216	Kit P05532	Morphology	c.2369delC p.Ala790Glufs*20 N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Holl HM; Brooks SA; Carpenter ML ; et al. (2017) A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all whi[...]	GP00002217	Kit P05532	Morphology	c.756+1G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Capomaccio S; Milanesi M; Nocelli C ; et al. (2017) Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Ital[...]	GP00002218	Kit P05532	Morphology	g.77736559C>T (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Dürig N; Jude R; Holl H ; et al. (2017) Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]	GP00002219	Kit P05532	Morphology	g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002220	Kit P05532	Morphology	c.1473T>G p.Cys491Trp	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002221	Kit P05532	Morphology	c.2536delA p.Ser846Valfs*15	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002222	Kit P05532	Morphology	c.668T>C p.Leu223Pro	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hug P; Jude R; Henkel J ; et al. (2019) A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.	GP00002223	Kit P05532	Morphology	g.79;579;925-79;581;197del 1273bp deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D		Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Lim HT; Zhong T; Cho IC ; et al. (2011) Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrosse[...] 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002227	Kit P05532	Morphology	U(26) repeat in intron 5 of the KIT gene with a single G interruption likely to mediate skipping of exon 5 of the gene in some tissues including skin ; the WT allele has an U(27) repeat interrupted by 5 G	Sus scrofa domesticus domestic pig - (subspecies)	Sus scrofa domesticus domestic pig - (subspecies) D		Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Gene Amplification, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001342	Kit P05532	Morphology	serial translocations Cs6 and Cs29	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D		Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Unknown, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001343	Kit P05532	Morphology	haplotype Swf (indels and SNP)	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D		Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Seitz JJ; Schmutz SM; Thue TD ; et al. (1999) A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...] 1 Additional References Aasland M; Klungland H; Lien S (2000) Two polymorphisms in the bovine mast cell growth factor gene (MGF).	GP00000101	KITLG P21583	Morphology	Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Kit ligand	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Miller CT; Beleza S; Pollen AA ; et al. (2007) cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...] 1 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans.	GP00000522	KITLG P21583	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)		Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	2 Mutations: Coding SNP	Vulpes lagopus Arctic fox - (species)	Interspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...] 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000569	MC1R Q01726	Morphology	2 mutations	Vulpes vulpes red fox - (species)	Vulpes lagopus Arctic fox - (species)		MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. 1 Additional References Joerg H; Fries HR; Meijerink E (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene.	GP00000571	MC1R Q01726	Morphology	1 bp deletion at 104: frameshift and premature stop at amino acid 156 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.	GP00000572	MC1R Q01726	Morphology	L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Newton JM; Wilkie AL; He L ; et al. (2000) Melanocortin 1 receptor variation in the domestic dog. 1 Additional References Everts RE; Rothuizen J; van Oost BA (2000) Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) [...]	GP00000573	MC1R Q01726	Morphology	R306ter; deletes 12 of 17 a.a. from C-terminus	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb) MC1R studies in dogs with melanistic mask or brindle patterns.	GP00000574	MC1R Q01726	Morphology	M264V	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Gene Loss, Complex Change N	Cavia porcellus domestic guinea pig - (species) D	Domesticated	Candidate Gene	Cone RD; Lu D; Koppula S ; et al. (1996) The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation.	GP00000575	MC1R Q01726	Morphology	Deletion of part or all of gene N	Cavia porcellus domestic guinea pig - (species)	Cavia porcellus domestic guinea pig - (species) D		MC1R	Cavia porcellus domestic guinea pig - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000576	MC1R Q01726	Morphology	R18C	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000577	MC1R Q01726	Morphology	R109W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000578	MC1R Q01726	Morphology	R160W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000579	MC1R Q01726	Morphology	Q233H	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus caballus horse - (species)	Intraspecific	Candidate Gene	Marklund L; Moller MJ; Sandberg K ; et al. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000580	MC1R Q01726	Morphology	S83F	Equus caballus horse - (species)	Equus caballus horse - (species)		MC1R	Equus caballus horse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Puma yagouaroundi jaguarundi - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000581	MC1R Q01726	Morphology	Deletion of aa 95-102	Puma yagouaroundi jaguarundi - (species)	Puma yagouaroundi jaguarundi - (species) D		MC1R	Puma yagouaroundi jaguarundi - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion N	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000582	MC1R Q01726	Morphology	1bp deletion at 183; frameshift & premature stop N	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus poschiavinus (species)	Interspecific	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000583	MC1R Q01726	Morphology	S69L	Mus musculus house mouse - (species)	Mus poschiavinus (species)		MC1R	Mus poschiavinus (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000584	MC1R Q01726	Morphology	E92K	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000585	MC1R Q01726	Morphology	L98P	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Intraspecific	Candidate Gene	Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr) A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]	GP00000586	MC1R Q01726	Morphology	W252C	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000588	MC1R Q01726	Morphology	6bp in-frame del of 94-95	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000589	MC1R Q01726	Morphology	30bp in-frame del of 102-111	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Scotti E; Colombo M ; et al. (2010) A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]	GP00000590	MC1R Q01726	Morphology	6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000591	MC1R Q01726	Morphology	D121N	Ovis aries sheep - (species)	Ovis aries sheep - (species)		MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000592	MC1R Q01726	Morphology	M73K	Ovis aries sheep - (species)	Ovis aries sheep - (species)		MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Panthera onca jaguar - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000593	MC1R Q01726	Morphology	Deletion of aa 101-105 and L106T	Panthera onca jaguar - (species)	Panthera onca jaguar - (species) D		MC1R	Panthera onca jaguar - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Linkage Mapping	Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006) A single amino acid mutation contributes to adaptive beach mouse color pattern.	GP00000594	MC1R Q01726	Morphology	R65C	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)		MC1R	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Rattus rattus black rat - (species)	Interspecific	Candidate Gene	Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011) Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]	GP00000595	MC1R Q01726	Morphology	Glu93Lys	Rattus tanezumi Oriental house rat - (species)	Rattus rattus black rat - (species)		MC1R	Rattus rattus black rat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D	Intraspecific	Candidate Gene	McRobie H; Thomas A; Kelly J (2009 Nov-Dec) The genetic basis of melanism in the gray squirrel (Sciurus carolinensis). 1 Additional References McRobie HR; Moncrief ND; Mundy NI (2019) Multiple origins of melanism in two species of North American tree squirrel (Sciurus).	GP00000596	MC1R Q01726	Morphology	Deletion of 8 a.a.	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D		MC1R	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ursus americanus American black bear - (species)	Intraspecific	Candidate Gene	Ritland K; Newton C; Marshall HD (2001) Inheritance and population structure of the white-phased "Kermode" black bear.	GP00000597	MC1R Q01726	Morphology	Y298C	Ursus americanus American black bear - (species)	Ursus americanus American black bear - (species)		MC1R	Ursus americanus American black bear - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes vulpes red fox - (species)	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000598	MC1R Q01726	Morphology	C125R; constitutively active receptor	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species)		MC1R	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
MC1R	Coloration (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, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001333	MC1R Q01726	Morphology	Asp119Asn	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D		MC1R	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00001337	MC1R Q01726	Morphology	c.G>A p.Asp124Asn	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Arctocephalus gazella antarctic fur seal - (species) D	Intraspecific	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001338	MC1R Q01726	Morphology	c.C>T p.Ser291Phe	Arctocephalus gazella antarctic fur seal - (species)	Arctocephalus gazella antarctic fur seal - (species) D		MC1R	Arctocephalus gazella antarctic fur seal - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Tyto alba Barn owl - (species) D	Intraspecific	Candidate Gene	San-Jose LM; Ducrest AL; Ducret V ; et al. (2015) Effect of the MC1R gene on sexual dimorphism in melanin-based colorations. 3 Additional References San-Jose LM; Ducret V; Ducrest AL (2017) Beyond mean allelic effects: A locus at the major color gene MC1R associates also with differing lev[...] Burri R; Antoniazza S; Gaigher A (2016) The genetic basis of color-related local adaptation in a ring-like colonization around the Mediterra[...] San-Jose LM; Ducrest AL; Ducret V (2017) MC1R variants affect the expression of melanocortin and melanogenic genes and the association betwee[...]	GP00001339	MC1R Q01726	Morphology	p.Val126Ile	Tyto alba Barn owl - (species)	Tyto alba Barn owl - (species) D	R	MC1R	Tyto alba Barn owl - (species)	Reviewed	September 26, 2019 17:00
MC1R	Coloration (coat)	2 Mutations: Coding SNP	Rangifer tarandus reindeer - (species) D	Domesticated	Candidate Gene	Våge DI; Nieminen M; Anderson DG ; et al. (2014) Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral c[...]	GP00001350	Mc1r Q01727	Morphology	2 mutations	Rangifer tarandus reindeer - (species)	Rangifer tarandus reindeer - (species) D		MC1R	Rangifer tarandus reindeer - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2014) A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.	GP00001351	Mc1r Q01727	Morphology	c.629T>C p.Met210Thr	Equus asinus ass - (species)	Equus asinus ass - (species) D		MC1R	Equus asinus ass - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Fontanesi L; Beretti F; Riggio V ; et al. (2009) Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: ass[...]	GP00001353	Mc1r Q01727	Morphology	c.801C>G p.Cys267Trp	Capra hircus goat - (species)	Capra hircus goat - (species) D		MC1R	Capra hircus goat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP N	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).	GP00001354	Mc1r Q01727	Morphology	p.Gln34* and p.Met73Leu and p.Arg142Pro - p.Met73Leu and p.Arg142Pro were only found in heterozygous and their association with phenotype is supposed but not sure N	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D		MC1R	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Leopardus geoffroyi Geoffroy's cat - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001733	MC1R Q01726	Morphology	All melanistic individuals were heterozygous for four variants that predicted three nonsynonymous substitutions, p.C125R, p.T177I, and p.G194S - In the laboratory mouse a Cys to Arg substitution at the site homologous to felid residue 125 causes constitutive activation of the receptor and the exact same change is thought to be responsible for melanism in the Alaska silver fox - therefore C125R is considered to be the likely causative alteration in the Geoffroy’s cat.	Leopardus geoffroyi Geoffroy's cat - (species)	Leopardus geoffroyi Geoffroy's cat - (species) D		MC1R	Leopardus geoffroyi Geoffroy's 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
MC1R	Coloration (coat)	Cis-regulatory, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Dürig N; Letko A; Lepori V ; et al. (2018) Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.	GP00002302	MC1R Q01726	Morphology	single nucleotide variant within the MITF binding site of the canine MC1R promoter	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dreger DL; Schmutz SM (2010 Sep-Oct) A new mutation in MC1R explains a coat color phenotype in 2 "old" breeds: Saluki and Afghan hound.	GP00002303	MC1R Q01726	Morphology	c.233G>T p.G78V 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, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Bauer A; Kehl A; Jagannathan V ; et al. (2018) A novel MLPH variant in dogs with coat colour dilution.	GP00000643	Mlph Q91V27	Morphology	c.705G>C p.Gln235His	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		Melanophilin (MLPH)	Canis lupus familiaris dog - (subspecies)	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, SNP	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Vaez M; Follett SA; Bed'hom B ; et al. (2008) A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phe[...]	GP00000645	Mlph Q91V27	Morphology	c.103C>T p.R35W	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D		Melanophilin (MLPH)	Gallus gallus chicken - (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, SNP	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. 1 Additional References Manakhov AD; Andreeva TV; Trapezov OV (2019) Genome analysis identifies the mutant genes for common industrial Silverblue and Hedlund white coat [...]	GP00000647	Mlph Q91V27	Morphology	Splice donor site variation in exon 8 resulting in a premature stop codon c.901+1G>A	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, SNP	Oryctolagus (genus) 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.	GP00000649	Mlph Q91V27	Morphology	c.111-5C>A (exon skipping resulting in frameshift and truncated protein)	Oryctolagus (genus)	Oryctolagus (genus) D		Melanophilin (MLPH)	Oryctolagus (genus)	Published - Accepted by Curator
Melanophilin (MLPH)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Linkage Mapping	Drögemüller C; Philipp U; Haase B ; et al. (2007) A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal[...]	GP00002330	Mlph Q91V27	Morphology	GA substitution at splice donor site causing Splicing defect	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		Melanophilin (MLPH)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Melanophilin (MLPH)	Coloration (coat)	Coding, Insertion N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Van Buren SL; Minor KM; Grahn RA ; et al. (2020) A Third MLPH Variant Causing Coat Color Dilution in Dogs.	GP00002331	Mlph Q91V27	Morphology	c.667_668insC p.(His223Profs*41) N	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		Melanophilin (MLPH)	Canis lupus familiaris dog - (subspecies)	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
MFSD12	Coloration (coat)	Coding, Insertion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Tanaka J; Leeb T; Rushton J ; et al. (2019) Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.	GP00002243	MFSD12 Q6NUT3	Morphology	p.(Asp201fs) due to c.600Cins N	Equus caballus horse - (species)	Equus caballus horse - (species) D		MFSD12	Equus caballus horse - (species)	Published - Accepted by Curator
MFSD12	Coloration (coat)	Coding, SNP N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Hédan B; Cadieu E; Botherel N ; et al. (2019) Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]	GP00002244	MFSD12 Q6NUT3	Morphology	c.151C>T p.Arg51Cys N	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		MFSD12	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Fontanesi L; Scotti E; Russo V (2012) Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmen[...] 2 Additional References Hayes BJ; Pryce J; Chamberlain AJ (2010) Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat per[...] Jivanji S; Worth G; Lopdell TJ (2019) Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in c[...]	GP00000656	Mitf Q08874	Morphology	unknown but association with intronic variant	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Microphtalmia-associated transcription factor	Bos taurus cattle - (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 Baranowska Körberg I; Sundström E; Meadows JR (2014) A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.	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 (coat)	Cis-regulatory, Insertion	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.	GP00000658	Mitf Q08874	Morphology	11bp insertion in melanocyte-specific promoter; disrupting PAX3 binding site	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, SNP	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.	GP00000659	Mitf Q08874	Morphology	c.629A>G N310S yielding defective DNA-binding	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	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, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Dürig N; Jude R; Jagannathan V ; et al. (2017) A novel MITF variant in a white American Standardbred foal.	GP00002323	Mitf Q08874	Morphology	c.731G>A p.G244E	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	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Hofstetter S; Seefried F; Häfliger IM ; et al. (2019) A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted c[...]	GP00002326	Mitf Q08874	Morphology	unknown based SNP association	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		Microphtalmia-associated transcription factor	Bos taurus cattle - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP N	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015) Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]	GP00002327	Mitf Q08874	Morphology	c.328C>T p.R110* N	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D		Microphtalmia-associated transcription factor	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP N	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015) Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]	GP00002328	Mitf Q08874	Morphology	donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF N	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D		Microphtalmia-associated transcription factor	Bubalus bubalis water buffalo - (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, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Gutiérrez-Gil B; Wiener P; Williams JL (2007) Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-B[...]	GP00002027	PMEL Q06154	Morphology	g.57669926G>A c.64G>A p.Gly22Arg	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		PMEL17	Bos taurus cattle - (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
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Clark LA; Wahl JM; Rees CA ; et al. (2006) Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.	GP00002072	Pmel Q60696	Morphology	due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, Insertion	Mus musculus house mouse - (species) D	Domesticated	Linkage Mapping	Kwon BS; Halaban R; Ponnazhagan S ; et al. (1995) Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pme[...]	GP00002101	Pmel Q60696	Morphology	single nucleotide (A) insertion in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal is created downstream from the wild-type reading frame. The silver pmel 17 protein has a major defect at the carboxyl terminus.	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D		PMEL17	Mus musculus house mouse - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002266	Pmel Q60696	Morphology	Allele of the Merle SINE insertaiion : Mc (208-230bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002267	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Mc+ (231-245bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002268	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Ma (247-254bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002269	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Ma+ (255-264bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002270	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Mh (269-277bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D		PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Brunberg E; Andersson L; Cothran G ; et al. (2006) A missense mutation in PMEL17 is associated with the Silver coat color in the horse. 4 Additional References Reissmann M; Bierwolf J; Brockmann GA (2007) Two SNPs in the SILV gene are associated with silver coat colour in ponies. Bellone RR (2010) Pleiotropic effects of pigmentation genes in horses. Watt B; Tenza D; Lemmon MA (2011) Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathog[...] Andersson LS; Wilbe M; Viluma A (2013) Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effec[...]	GP00002271	Pmel Q60696	Morphology	g.73665304C>T p.R625C	Equus caballus horse - (species)	Equus caballus horse - (species) D		PMEL17	Equus caballus horse - (species)	Published - Accepted by Curator
PSMB7	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Linkage Mapping	Clark LA; Tsai KL; Starr AN ; et al. (2011) A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning[...]	GP00000936	Psmb7 P70195	Morphology	c.146T>G p.V6G	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies)		PSMB7	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
RALY (hnRNP associated with lethal yellow)	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus gray wolf - (species) D	Intraspecific	Association Mapping	Dreger DL; Parker HG; Ostrander EA ; et al. (2013 May-Jun) Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in [...]	GP00001366	RALY Q9UKM9	Morphology	16 bpduplication g.1875_1890dupCCCCAGGTCAGAGTTT in intron	Canis lupus gray wolf - (species)	Canis lupus gray wolf - (species) D		RALY (hnRNP associated with lethal yellow)	Canis lupus gray wolf - (species)	Published - Accepted by Curator
SLC36A1	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Cook D; Brooks S; Bellone R ; et al. (2008) Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.	GP00002278	SLC36A1 Q7Z2H8	Morphology	c.188C>G p.T63R	Equus caballus horse - (species)	Equus caballus horse - (species) D		SLC36A1	Equus caballus horse - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Mariat D; Taourit S; Guérin G (2003 Jan-Feb) A mutation in the MATP gene causes the cream coat colour in the horse.	GP00001057	SLC45A2 Q9UMX9	Morphology	c.457G>A p.(Asp153Asn)	Equus caballus horse - (species)	Equus caballus horse - (species) D		SLC45A2=MATP	Equus caballus horse - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat)	Coding, SNP	Panthera tigris tiger - (species) D	Intraspecific	Association Mapping	Xu X; Dong GX; Hu XS ; et al. (2013) The genetic basis of white tigers.	GP00001063	SLC45A2 Q9UMX9	Morphology	A477V	Panthera tigris tiger - (species)	Panthera tigris tiger - (species) D		SLC45A2=MATP	Panthera tigris tiger - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Sevane N; Sanz CR; Dunner S (2019) Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution [...]	GP00002304	SLC45A2 Q9UMX9	Morphology	c.985G>A p.(Ala329Thr)	Equus caballus horse - (species)	Equus caballus horse - (species) D		SLC45A2=MATP	Equus caballus horse - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Holl HM; Pflug KM; Yates KM ; et al. (2019) A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]	GP00002305	SLC45A2 Q9UMX9	Morphology	c.568G>A p.(Gly190Arg)	Equus caballus horse - (species)	Equus caballus horse - (species) D		SLC45A2=MATP	Equus caballus horse - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Holl HM; Pflug KM; Yates KM ; et al. (2019) A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]	GP00002306	SLC45A2 Q9UMX9	Morphology	c.305G>A p.(Arg102Gln)	Equus caballus horse - (species)	Equus caballus horse - (species) D		SLC45A2=MATP	Equus caballus horse - (species)	Published - Accepted by Curator
T-box transcription factor (TBX3)	Coloration (coat)	Cis-regulatory, SNP	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Imsland F; McGowan K; Rubin CJ ; et al. (2016) Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]	GP00001461	TBX3 O15119	Morphology	G>T predicted to affect binding of the CCAT box-binding transcription factors NF-Y and NF-I ; Differs from the wild-type allele by a SNP downstream of the wild-type TBX3 sequence (located 1067bp downstream of the start of the larger nd2 deletion described in the nd2 entry) with allele nd1 = T compared with the wild-type D allele = G); an ancient variant	Equus caballus horse - (species)	Equus caballus horse - (species) D		T-box transcription factor (TBX3)	Equus caballus horse - (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
Taqpep	Coloration (coat)	Coding, Insertion N	Acinonyx jubatus cheetah - (species) D	Intraspecific	Candidate Gene	Kaelin CB; Xu X; Hong LZ ; et al. (2012) Specifying and sustaining pigmentation patterns in domestic and wild cats.	GP00001105	Lvrn Q2KHK3	Morphology	1bp insertion resulting in frameshift p.N977Kfs110 N	Acinonyx jubatus cheetah - (species)	Acinonyx jubatus cheetah - (species) D		Taqpep	Acinonyx jubatus cheetah - (species)	Published - Accepted by Curator
Taqpep	Coloration (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Intraspecific	Candidate Gene	Kaelin CB; Xu X; Hong LZ ; et al. (2012) Specifying and sustaining pigmentation patterns in domestic and wild cats.	GP00001106	Lvrn Q2KHK3	Morphology	D228N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		Taqpep	Felis catus domestic cat - (species)	Published - Accepted by Curator
Taqpep	Coloration (coat)	Coding, SNP N	Felis catus domestic cat - (species)	Intraspecific	Candidate Gene	Kaelin CB; Xu X; Hong LZ ; et al. (2012) Specifying and sustaining pigmentation patterns in domestic and wild cats.	GP00001107	Lvrn Q2KHK3	Morphology	S59stop N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species)		Taqpep	Felis catus domestic cat - (species)	Published - Accepted by Curator
Taqpep	Coloration (coat)	Coding, SNP N	Felis catus domestic cat - (species)	Intraspecific	Linkage Mapping	Kaelin CB; Xu X; Hong LZ ; et al. (2012) Specifying and sustaining pigmentation patterns in domestic and wild cats.	GP00001108	Lvrn Q2KHK3	Morphology	W841stop N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species)		Taqpep	Felis catus domestic cat - (species)	Published - Accepted by Curator
TPCN2	Coloration (coat)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008) Two newly identified genetic determinants of pigmentation in Europeans.	GP00001131	TPCN2 Q8NHX9	Morphology	Met484Leu and/or Gly734Gln	Homo sapiens human - (species)	Homo sapiens human - (species)		TPCN2	Homo sapiens human - (species)	Published - Accepted by Curator
TRPM1	Coloration (coat)	Cis-regulatory, Insertion	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Bellone RR; Forsyth G; Leeb T ; et al. (2010) Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and [...] 3 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art. Bellone RR; Holl H; Setaluri V (2013) Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness a[...] Druml T; Grilz-Seger G; Neuditschko M (2017) Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses.	GP00001140	TRPM1 Q7Z4N2	Morphology	a 1378 bp retroviral LTR insertion in intron 1 of TRPM1	Equus caballus horse - (species)	Equus caballus horse - (species) D		TRPM1	Equus caballus horse - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Lyons LA; Imes DL; Rah HC ; et al. (2005) Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). 1 Additional References Schmidt-Küntzel A; Eizirik E; O'Brien SJ (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]	GP00001142	Tyr P11344	Morphology	c.679G>T p.G227W	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 (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Lyons LA; Imes DL; Rah HC ; et al. (2005) Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). 1 Additional References Schmidt-Küntzel A; Eizirik E; O'Brien SJ (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]	GP00001143	Tyr P11344	Morphology	c. 940G>A p.G302R	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 (coat)	Coding, SNP	Panthera leo lion - (species) D	Intraspecific	Association Mapping	Cho YS; Hu L; Hou H ; et al. (2013) The tiger genome and comparative analysis with lion and snow leopard genomes.	GP00001346	Tyr P11344	Morphology	c.260G>A p.Arg87Gln	Panthera leo lion - (species)	Panthera leo lion - (species) D		tyrosinase (TYR)	Panthera leo lion - (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, Indel	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Yu Y; Grahn RA; Lyons LA (2019) Mocha tyrosinase variant: a new flavour of cat coat coloration.	GP00002311	Tyr P11344	Morphology	c.820_936delinsAATCTC p.I274_L312delinsNL	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 (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 (coat)	Coding, SNP N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Abitbol M; Bossé P; Grimard B ; et al. (2017) Allelic heterogeneity of albinism in the domestic cat.	GP00002313	Tyr P11344	Morphology	c.1204C>T p.R402* 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 (coat)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ciobanu DC ; et al. (2004) A form of albinism in cattle is caused by a tyrosinase frameshift mutation.	GP00002315	Tyr P11344	Morphology	c.925_926insC N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		tyrosinase (TYR)	Bos taurus cattle - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Aigner B; Besenfelder U; Müller M ; et al. (2000) Tyrosinase gene variants in different rabbit strains.	GP00002316	Tyr P11344	Morphology	c.1118C>A p.T373K (also causes albinism in humans)	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		tyrosinase (TYR)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Cavia porcellus domestic guinea pig - (species) D	Domesticated	Candidate Gene	Yu F; Jiao S; Lai W ; et al. (2018) Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domesti[...]	GP00002317	Tyr P11344	Morphology	c.710A>G p.Asp237Gly	Cavia porcellus domestic guinea pig - (species)	Cavia porcellus domestic guinea pig - (species) D		tyrosinase (TYR)	Cavia porcellus domestic guinea pig - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Damé MC; Xavier GM; Oliveira-Filho JP ; et al. (2012) A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.	GP00002318	Tyr P11344	Morphology	c.1431G>A p.W477*	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D		tyrosinase (TYR)	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Neovison vison American mink - (species) D	Domesticated	Candidate Gene	Anistoroaei R; Fredholm M; Christensen K ; et al. (2008) Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.	GP00002319	Tyr P11344	Morphology	c.138T>A p.C46*	Neovison vison American mink - (species)	Neovison vison American mink - (species) D		tyrosinase (TYR)	Neovison vison American mink - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Neovison vison American mink - (species) D	Domesticated	Candidate Gene	Benkel BF; Rouvinen-Watt K; Farid H ; et al. (2009) Molecular characterization of the Himalayan mink.	GP00002320	Tyr P11344	Morphology	c.1835C>G p.H420Q	Neovison vison American mink - (species)	Neovison vison American mink - (species) D		tyrosinase (TYR)	Neovison vison American mink - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Cervus elaphus red deer - (species) D	Intraspecific	Candidate Gene	Reiner G; Tramberend K; Nietfeld F ; et al. (2020) A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associat[...]	GP00002375	Tyr P11344	Morphology	"a non-synonymous mutation with exchange of a glycine residue at position 291 of the tyrosinase protein by arginine was identified as the cause of dilution of the coat colour" The mutation is on nucleotide 871 (G > A) but the exact codons are not specified in the paper.	Cervus elaphus red deer - (species)	Cervus elaphus red deer - (species) D		tyrosinase (TYR)	Cervus elaphus red deer - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Berryere TG; Schmutz SM; Schimpf RJ ; et al. (2003) TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow?	GP00001145	Tyrp1 P07147	Morphology	c.1300C>T p.H434Y	Bos taurus cattle - (species)	Bos taurus cattle - (species)		tyrosinase-related protein 1 (TYRP1)	Bos taurus cattle - (species)	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 (coat)	Coding, SNP N	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.	GP00001147	Tyrp1 P07147	Morphology	premature stop codon in exon 5 (Q331ter) N	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 (coat)	Coding, SNP N	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Schmidt-Küntzel A; Eizirik E; O'Brien SJ ; et al. (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...] 1 Additional References Lyons LA; Foe IT; Rah HC (2005) Chocolate coated cats: TYRP1 mutations for brown color in domestic cats.	GP00001153	Tyrp1 P07147	Morphology	premature UAG stop codon at position 100 of TYRP1; AAG>TAG c.298C>T p.R100* N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		tyrosinase-related protein 1 (TYRP1)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, Unknown	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Schmidt-Küntzel A; Eizirik E; O'Brien SJ ; et al. (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]	GP00001154	Tyrp1 P07147	Morphology	Two mutations associated with the chocolate (b) allele - one leading to a TYRP1-A3G substitution in the signal peptide and another to an in-frame insertion TYRP1-421ins17/18 caused by a donor splice site mutation in intron 6 -exact causing change unknown	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		tyrosinase-related protein 1 (TYRP1)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Kenny EE; Timpson NJ; Sikora M ; et al. (2012) Melanesian blond hair is caused by an amino acid change in TYRP1.	GP00001155	Tyrp1 P07147	Morphology	R93C	Homo sapiens human - (species)	Homo sapiens human - (species) D		tyrosinase-related protein 1 (TYRP1)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species) D	Domesticated	Linkage Mapping	Gratten J; Beraldi D; Lowder BV ; et al. (2007) Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour po[...]	GP00001156	Tyrp1 P07147	Morphology	c. 869G>T p.C290F ; Cys residue involved shows a high degree of evolutionary conservation; it is conserved not only across vertebrates but also in the two paralogues of TYRP1, DCT and TYR	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		tyrosinase-related protein 1 (TYRP1)	Ovis aries sheep - (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, SNP	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.	GP00002233	Tyrp1 P07147	Morphology	c.121T>A p.Cys41Ser	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 (coat)	Coding, SNP N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Hrckova Turnova E; Majchrakova Z; Bielikova M ; et al. (2017) A novel mutation in the TYRP1 gene associated with brown coat colour in the Australian Shepherd Dog [...]	GP00002234	Tyrp1 P07147	Morphology	c.555T>G p.Tyr185* N	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 (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Wright HE; Schofield E; Mellersh CS ; et al. (2019) A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers.	GP00002235	Tyrp1 P07147	Morphology	c.1025T>G p.Phe342Cys	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 (coat)	Coding, SNP	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Becker D; Otto M; Ammann P ; et al. (2015) The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1[...]	GP00002236	Tyrp1 P07147	Morphology	c.1487G>A p.Gly496Asp	Capra hircus goat - (species)	Capra hircus goat - (species) D		tyrosinase-related protein 1 (TYRP1)	Capra hircus goat - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species) D	Domesticated	Linkage Mapping	Raadsma HW; Jonas E; Fleet MR ; et al. (2013) QTL and association analysis for skin and fibre pigmentation in sheep provides evidence of a major c[...]	GP00002237	Tyrp1 P07147	Morphology	c.2240C>G p.A746V	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		tyrosinase-related protein 1 (TYRP1)	Ovis aries sheep - (species)	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
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP 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.	GP00002239	Tyrp1 P07147	Morphology	c.1066C>T p.(Arg356*) N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D		tyrosinase-related protein 1 (TYRP1)	Ovis aries sheep - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Linkage Mapping	Utzeri VJ; Ribani A; Fontanesi L (2014) A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit[...]	GP00002240	Tyrp1 P07147	Morphology	c.570G>A p.Trp190ter N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		tyrosinase-related protein 1 (TYRP1)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Cis-regulatory, Insertion N	Neovison vison American mink - (species) D	Domesticated	Candidate Gene	Cirera S; Markakis MN; Kristiansen T ; et al. (2016) A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in Ameri[...]	GP00002241	Tyrp1 P07147	Morphology	Large insertion in intron 2 resulting in aberrant transcript N	Neovison vison American mink - (species)	Neovison vison American mink - (species) D		tyrosinase-related protein 1 (TYRP1)	Neovison vison American mink - (species)	Published - Accepted by Curator