UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory
Oculocutaneous Albinism (OCA) in Doberman Pinscher

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“White” (cream-colored) Doberman Pinschers display a color dilution of the coat, eyes and skin caused by a large deletion in the SLC45A2 gene. This color dilution is inherited as a recessive trait; such that two copies of the mutant gene are needed to produce the phenotype. This mutation traces back to a female, Padula’s Queen Sheba or “Sheba”, born in 1976.  Sheba produced an extensive pedigree as breeders selected for this phenotype. Color-diluted dogs are cream in color with blue-eyes, have little pigmentation around eyes, mouth and nose, and are sensitive to bright light. Dogs tracing back to Sheba are eligible for registration with AKC but have a “WZ” (Z-listing) prefix on their registration numbers.

Mutations in SLC45A2 are known to cause oculocutaneous albinism type 4 (OCA4) in humans and the cream-dilution phenotypes in horses. Unlike true white depigmentation patterns, there is no loss of hearing associated with the SLC45A2 dilute phenotypes.

Genetic testing for oculocutaneous albinism/cream dilution is recommended for Doberman Pinscher Dogs that descend from “Sheba”. Breeding of two carriers for the dilution mutation can result in 25% of white/cream puppies. Genetic testing can be used by owners and breeders as a tool for selection of mating pairs.

Results are reported as:

N/N:

Normal - no copies of the OCA mutation

N/OCA:

Carrier - 1 copy of the OCA mutation

OCA/OCA:

Affected - 2 copies of the OCA mutation

References

Winkler PA, Gornik KR, Ramsey DT, Dubielzig RR, Venta PJ, Petersen-Jones SM, et al. (2014) A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs. PLoS ONE 9(3): e92127. doi:10.1371/journal.pone.0092127

Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL