Color: Full color, Burmese color-point pattern, Siamese color-point pattern, albino
Samples Accepted: Blood, Buccal Swabs
Locus Information: C series
The C series is caused by mutations in the TYR gene. The wild-type allele results in a fully-colored animal. The Burmese color-point pattern (Test# C204) has reduced body pigmentation and full pigmentation only on the extremities of the body (face, feet, tail). The Siamese color-point pattern (Test# C205) has pigmentation only on the extremities with blue eyes, and albino is a lack of pigmentation at any point in the body, and blue eyes.
Burmese color-point pattern: Test # C204: This mutation test identifies a single base pair change in exon 1 of the TYR gene. This mutation is fixed in the Burmese and Singapura breeds, where it is also known as Sepia.
Siamese color-point pattern & Albino: Test # C205: This test detects two mutations. The first is a single base pair change in exon 2 of the TYR gene. This mutation is fixed in Siamese, Birman, and Himalayan breeds. The second mutation is very rare, and is caused by a deletion in exon 2, which eliminates pigmentation completely, resulting in the albino phenotype.
The Tonkinese breed is heterozygous for the Burmese and Siamese alleles, which results in a color known as mink.
Imes, DL., Geary, LA., Grahn, RA., Lyons, LA.: Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Anim Genet 37:175-8, 2006. Pubmed reference: 16573534. Doi: 10.1111/j.1365-2052.2005.01409.x.
Lyons, LA., Imes, DL., Rah, HC., Grahn, RA.: Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Anim Genet 36:119-26, 2005. Pubmed reference: 15771720. Doi: 10.1111/j.1365-2052.2005.01253.x.
Further information is available at the Online Mendelian Inheritance in Animals website.