Oculocutaneous albinism
Symptoms Light-brown skin, yellow irises, red-eye effect
Gene involved HPS5
Mutation tested c.2571-1G>A
Transmission mode : Autosomal recessive Age of onset : From birth
Publication : Mériot et al. (2020). Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene.