Albinism (Small Breed Type)



Albinism

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US: $40.00 | UK: £27.00

Breeds: All

Description

Lhasa Apso Albinism (LAA) is an oculocutaneous albinism found in small breeds phenotypically characterized by white or off-white fur, pink skin, pale or blue eyes and depigmented nose, lips and foot pads. Although dogs with this condition lead a relatively normal life, they can be prone to light sensitivity and melanocytic tumors. Unlike other forms of albinism, hearing loss is not a symptom to this disorder.

A missense variant (c.1478G>A) in the SLC45A2 gene is the primary cause for albinism in several small dog breeds including French Bull Dog, German Spitz, Lhasa Apso, Pekingese, Pomeranian, Pug and mixed breed. In the French Bulldog and Pug this variant is often referred to as pink.

The C.1478G>A variant is not responsible for albinism in other types of dogs including the Bull Mastiff and Doberman Pinscher. Other variants in the SLC45A2 gene cause albinism in the Bull Mastiff a single base deletion and the Doberman Pinscher a large deletion in SLC45A2. Additional variants in SLC45A2 have been identified in humans, gorillas, cattle and other species of animals with oculocutaneous albinism.

Possible Results

Genotype Description
A/A Dog has two copies for the allele causing albinism in some small breeds and will express the albino phenotype/
n/A Dog has one copy of the allele causing albinism in some small breeds.
n/n Dog is negative for the allele causing albinism in some small breeds.

Reference

A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds. Wijesena HR, Schmutz SM. J Hered. 2015 May-Jun;106(3):285-8. doi: 10.1093/jhered/esv008. [PubMed: 25790827]