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
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002163
Cmah
Q61419
Physiology
c.179G>T p.G60V
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002164
Cmah
Q61419
Physiology
c.364C>T p.P122S
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002165
Cmah
Q61419
Physiology
c.1322delT p.Leu441* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002166
Cmah
Q61419
Physiology
c.139G>A p.V47M
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002167
Cmah
Q61419
Physiology
c.268T>A p.Y89N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002168
Cmah
Q61419
Physiology
c.1600G>A p.D534N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00000311
Fgf5
P15656
Morphology
c.474delT resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Insertion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00002172
Fgf5
P15656
Morphology
c.ins356T resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
HES7
Organ size (tail; short)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Lyons LA; Creighton EK; Alhaddad H ; et al. (2016)
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentatio[...]
1 Additional References
GP00002190
HES7
Q9BYE0
Morphology
g.2819475A>G c.5A>G p.V2A
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
HES7
Felis catus
domestic cat - (species)
Published - Accepted by Curator
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
KRT71
Hair type (curly and hairless)
2 Mutations:
Coding
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00000525
Krt71
Q9R0H5
Morphology
2 mutations
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Alhaddad H; Joslin SE ; et al. (2013)
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.
GP00002232
Krt71
Q9R0H5
Morphology
c.445-1G>C in splice site likely disrupts the highly conserved acceptor splicing site of intron one. Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
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
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
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
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002290
Tbxt
P20293
Morphology
c.1169delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002291
Tbxt
P20293
Morphology
c.1199delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002292
Tbxt
P20293
Morphology
c.998delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Indel
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002293
Tbxt
P20293
Morphology
c.998_1014dup17delGCC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TRPV4
Ear size (drop)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Gandolfi B; Alamri S; Darby WG ; et al. (2016)
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
1 Additional References
GP00002279
TRPV4
Q9HBA0
Morphology
c.1024G>T p.V342F
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TRPV4
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
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
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,
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-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
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