In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , Japanese raccoon dog , Japanese ratsnake , , golden hamster

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

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

Inheritance: Reiner et al. (2020): "the inheritance of the white colour in the red deer of the Reinhardswald was established as autosomal recessive."

Molecular basis: Whole-genome sequencing of one white hind and her brown calf enabled Reiner et al. (2020) to identify a mutation in the tyrosinase (TYR) gene, namely c.871G>A, p.(G291R), as a likely causal variant of the white phenotype.

Clinical features: Red deer homozygous for the 291-Arg allele were reported to have a very pale ("white") coat color with females being lighter than males. The eyes of the animals were pigmented (Reiner et al. 2020). This suggests that the 291-Arg allele represents a hypomorphic rather than a null allele.

Prevalence: Reiner et al. (2020): "In the red deer (Cervus elaphus) population of Reinhardswald in Germany, about 5% of animals have a white coat colour that is not associated with albinism." These authors also reported that "From 194 brown red deer of the Reinhardswald 86% were homozygous and 14% were carriers of the white allele. Considering the estimation by the forest officers of the Reinhardswald of 50 white animals among the total population of around 1000 red deer (approximately 5%), genotype frequencies for GG, GA and AA were estimated as 81.7, 13.3 and 5%, respectively. Under this assumption, the allele frequencies are estimated to be 88.4% (G) and 11.6% (A), respectively."

Associated gene: