Oculocutaneous Albinism (OCA) in Doberman Pinschers

Quick Summary

“White” (cream-colored) Doberman Pinschers display a color dilution of the coat, eyes, and skin caused by a large deletion in the SLC45A2 gene.

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Phenotype: “White” (cream-colored) Doberman Pinschers display a color dilution of the coat, eyes, and skin. Color-diluted dogs are cream in color with blue eyes, have little pigmentation around eyes, mouth and nose, and are sensitive to bright light.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal (non-albino), OCA = Oculocutaneous albinism

Breeds appropriate for testing: Doberman Pinscher

Explanation of Results:

  • Dogs with N/N genotype are expected to not have oculocutaneous albinism and not display the cream dilution. They cannot transmit this OCA variant to any of their offspring.
  • Dogs with N/OCA genotype are expected to not have oculocutaneous albinism and not display the cream dilution, but are carriers. They will transmit this OCA variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% of puppies that are white/cream with oculocutaneous albinism.
  • Dogs with OCA/OCA genotype are expected to have oculocutaneous albinism and be cream dilute. They will transmit this OCA variant to all of their offspring.

Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Price

$55 one test per animal
$75 two tests for coat color/fur type/bobtail (same animal) 
+ $15 each additional test if ordering more than three coat color/fur type/bobtail tests on the same animal

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Additional Details

“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.

Type of Sample
Cytology Brush - supplied by VGL at no additional charge (PREFERRED)
Mini mascara brushes - supplied by owner (click for accepted type)
Interdental/GUM brushes - supplied by owner (click for accepted types)

Species

Dog

Breed

Doberman Pinscher
Type of Test
Coat Color and/or Type
Results Reported As
Test Result Oculocutaneous Albinism
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, P.A., Gornik, K.R., Ramsey, D.T., Dubielzig, R.R., Venta, P.J., Petersen-Jones, S.M., & Bartoe, J.T. (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

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