C Locus - Colourpoint Restriction

Colour distribution on the body

Symptoms
Burmese, Siamese, Mink, Mocha colourpoint restrictions and full albino.

Gene involved
TYR

Mutation tested
p.G302R (cs)

Transmission mode : Autosomal recessive
Age of onset : From birth
Specificity : Siamese colourpoint restriction

Publication : Lyons et al. (2005). Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
Schmidt-Küntzel et al. (2005). Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci.

Gene involved
TYR

Mutation tested
c.715G>T (cb)

Transmission mode : Autosomal recessive
Age of onset : From birth
Specificity : Burmese colourpoint restriction

Publication : Lyons et al. (2005). Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
Schmidt-Küntzel et al. (2005). Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci.

Gene involved
TYR

Mutation tested
c.1204C>T (c2)

Transmission mode : Autosomal recessive
Age of onset : From birth
Specificity : Albinism

Publication : Abitbol et al. (2017). Allelic heterogeneity of albinism in the domestic cat.

Gene involved
TYR

Mutation tested
c.975delC (c)

Transmission mode : Autosomal recessive
Age of onset : From birth
Specificity : Albinism

Publication : Imes et al. (2006). Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.

Gene involved
TYR

Mutation tested
c.820_936delinsAATCTC (cm)

Transmission mode : Autosomal recessive
Age of onset : From birth
Specificity : Mocha colourpoint restriction

Publication : Yu et al. (2019). Mocha tyrosinase variant: a new flavour of cat coat coloration.

Concerned breeds :