In other species: Japanese medaka , axolotl , marine toad , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , thirteen-lined ground squirrel , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Rice frog , red-necked wallaby , Japanese raccoon dog

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2004

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern.

Species summary: See also OMIA:002280-9913 : Coat colour, albinism, generic in Bos taurus (taurine cattle). Some refrences for albinism in cattle that have not been confirmed to be due to TYR variants have been moved to the generic entry [09/09/2025].

Mapping: 29q24

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Schmutz et al. (2004) showed that albinism in a family of Braunvieh cattle is due to a base insertion (926-927insC, omia.variant:589) in the tyrosinase (TYR) gene, causing a frameshift that results in premature termination at residue 316, compared with the normal peptide of 517 amino-acids.
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify "a likely pathogenic missense variant in TYR (NP_851344.1:p.Pro428Leu)" (omia.variant:1830) in an affected Simmental calf with oculocutaneous albinism.

Breeds: Brown Swiss (Cattle) (VBO_0000166), Simmental (Cattle) (VBO_0000380).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: