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. 2016 Jan 6;61(3):594–606. doi: 10.1111/1556-4029.13026

Table 2.

Phenotypic cat traits (eternally visible characters, EVCs) with known mutations in SNPplexes.a

Trait (alleles)b MOIc Phenotype Breeds Gene Mutation & Position SNP
Agouti (A + , a) AR Banded to solid Charcoal All cats Bengal ASIP c.41G>C, c.122_123delCA
c.142C>T
ASIP‐2, ASIP‐1
ASIP‐3
Brown (B + , b, b l ) AR Brown, light brown chocolate All cats TYRP1 d b = c.8C>G, b = c.120C>G, bl = c.298C>T TYRP1‐1, TYRP1‐2, TYRP1‐3
Color (C + , C b , C s , c) AR Burmese color, Siamese color Full albino All breeds TYR cb = c.715G>T, cs = c.940G>A, c = c.975delC TYR‐1
TYR‐3
TYR‐2
Dilution (D + , d) AR Black to gray/blue, All cats MLPH c.83delT MLPH
Extension (E + , e) – Amber AR Brown/red color variant Norwegian Forest Cat MC1R c.250G>A MC1R
Gloves (G + , g) AR White feet Birman KIT c.1035_1036delinsCA KIT
Hairless (Hr + , hr) AR Atrichia Sphynx KRT71 c.816 + 1G>A KRT71‐A
Long fur (L + , l) AR Long fur All cats FGF5 c.356_367insT, c.406C>T, c.474delT, c.475A>C FGF5‐4, FGF5‐3,
FGF5‐1, FGF5‐2
Rexing (R + , r) AR Curly hair coat Cornish Rex PYP2R5 c.250_253delTTTG PYP2R5
Rexing (Re + , re) AR Curly hair coat Devon Rex KRT71 c.1108‐4_1184del, c.1184_1185insAGTTGGAG, c.1196insT KRT71‐B
Rexing (Re S , Re + ) AD Curly hair coat Selkirk Rex KRT71 c.445‐1G>C KRT71‐C
Tabby (T M , t b ) AR Blotched/classic pattern All cats TAQPEP C.2524G>A TAQPEP
AB Blood Type (A + , b) AR Determines Type B All cats CMAH c.139G>A, c.199G>A
c.353C>T
CMAH‐3, CMAH‐2
CMAH‐1
Polydactyl (Pd, pd + ) AD Extra appendage All cats SHH c.257G>C, c.479A>G
c.481A>T
SHH‐1, SHH‐2, SHH‐3
Sex AR Sex Determination All cats ZFXY Y – 163 bp, X = 166 bp ZFX, ZFY
a

For review articles and original references 19, 20, 21.

b

“+” implies the wild‐type allele.

c

MOI implies mode of inheritance: AR is autosomal recessive, AD is autosomal dominant.

d

The variant b = −5IVS6, in TYRP1, is associated with brown coloration. The tested variants are in linkage disequilibrium with this casual variant.