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Phenotype: Affected dogs have a white or off-white coat with pink skin, nose, lips and paw pads, and blue irises.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, LAA = Lhasa Apso albinism
Breeds appropriate for testing: Lhasa Apso, Pomeranian, Pekingese, French Bulldog, Pug*
Explanation of results:
• Dogs with N/N genotype are not expected to display this specific albinism. They cannot transmit this LAA variant to any of their offspring.
• Dogs with N/LAA genotype are not expected to display this specific albinism but are carriers of the LAA variant. They are predicted to transmit the LAA variant to 50% of their offspring. Matings between two carriers of the LAA variant may, on average, produce 25% of puppies with the LAA albinism.
• Dogs with LAA/LAA genotypes are homozygous for the LAA variant and are expected to display the albinism phenotype. They will transmit a LAA variant to all of their offspring.
* Note: This variant was not the cause of albinism in the Pug at the time of discovery. However, since then, a phenotype of interest in the Pug, also referred to as pink, appears to be associated with this LAA variant and pink Pugs are typically genotyped as LAA/LAA.
Albinism is a genetic disorder that is characterized by an inability to produce pigment. In oculocutaneous albinism, the skin (including nose and paw pads) and eyes lack pigmentation. As a result, dogs with albinism typically display a white or off-white coat with pink skin, nose, lips and paw pads, and blue or white irises. Note that not all dogs with white coats have albinism. In most cases, the solid white coat of dogs is caused by white spotting. Non-albino white dogs can be distinguished from true albinism because their nose, eyes, paw pads and skin display normal pigmentation.
A missense variant (c.1478G>A) in the solute carrier family 45, member 2 (SLC45A2) gene, causing a glycine to aspartic acid substitution, was identified as the cause of albinism in a Lhasa Apso dog. The variant was also identified as the cause of albinism in a Pomeranian family, a Pekingese dog and a mixed breed dog. Research at the VGL has identified this same variant in French Bulldogs (commonly referred to as pink in that breed). The C.1478G>A variant is not the cause of albinism in the Pug. However, a phenotype of interest in the Pug, also referred to as pink, appears to also be associated with this LAA variant and pink Pugs are typically genotyped as LAA/LAA.
Additional variants in SLC45A2 also cause oculocutaneous albinism in different dog breeds: a large deletion in SLC45A2 causes albinism in the Doberman Pinscher and a single base deletion in this gene causes albinism in the Bull Mastiff. Mutations in SLC45A2 have also been shown to cause oculocutaneous albinism in humans, gorillas, and cattle. Unlike with other white depigmentation patterns, no loss of hearing is associated with SLC45A2 variants.
Testing recommendations: Genetic testing for albinism can be used by owners and breeders as a tool for selection of mating pairs.
Species
Breed
|
Test Result |
Lhasa Apso Albinism |
|
N/N |
No copies of the variant associated with the albinism first identified in the Lhasa Apso. |
|
N/LAA |
Carrier of the variant associated with the albinism first identified in the Lhasa Apso. |
|
LAA/LAA |
2 copies of the variant associated with the albinism first identified in the Lhasa Apso. |
Wijesena, H. R., Schmutz, S. M. (2015). A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds, Journal of Heredity, 106(3), 285-288. doi: 10.1093/jhered/esv008.
Online Mendelian Inheritance in Animals (OMIA). Sydney School of Veterinary Science, University of Sydney. OMIA Numbers: 001821-9615:29 Aug 2017; 001821-9593:11 Dec 2017; 001821-9913:11 Oct 2017. World Wide Web URL: https://omia.org/
Brancalion, L., Haase, B. and Wade, C.M. (2022). Canine coat pigmentation genetics: a review. Animal Genetics, 53: 3-34. doi: 10.1111/age.13154
