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

Sample Collection

Dog DNA tests are carried out using cells brushed from your dog's cheeks and gums. The preferred cytology brushes are sent to you by mail, or you may provide your own brushes. For accepted alternative brushes, click here

We recommend waiting until puppies are at least three weeks old before testing.

 

Dog having its cheeks and gums brushed for DNA samples
Cheek and gum brushing technique for canine DNA sample collection

Step-By-Step:

  1. Make sure the dog has not had anything to eat or drink for at least 1 hour prior to collecting sample.
  2. When swabbing puppies, isolate each puppy from the mother, littermates and any shared toys for 1 hour prior to swabbing. Puppies should not have nursed or eaten for 1 hour prior to collecting sample.
  3. If collecting samples from more than one dog, make sure to sample one dog at a time and wash your hands before swabbing another dog.
  4. Label brush sleeve with name or ID of dog to be sampled.
  5. Open brush sleeve by arrow and remove one brush by its handle.
  6. Place bristle head between the dog’s gums and cheek and press lightly on the outside of the cheek while rubbing or rotating the brush back and forth for 15 seconds.
  7. Wave the brush in the air for 20 seconds to air dry.
  8. Insert brush back into sleeve.
  9. Repeat steps 5 - 8 for each unused brush in sleeve on a fresh area of cheek and gums. Make sure to use and return all brushes sent by the VGL. In most cases, it will be 3 brushes per dog. If using interdental gum brushes, please note that the VGL requires 4 brushes per dog and only moderate or wide interdental gum brushes are accepted.
  10. Do not seal brushes in sleeve.
  11. Place all samples in an envelope and return to the address provided.

ATTENTION:

  • Do not collect saliva/drool – the key to obtaining a good sample is getting cheek cells on the swab
  • Do not rub swab on the dog’s tongue or teeth – this will result in poor quality sample
  • Do not collect a sample from a puppy that has recently nursed – the mother’s genetic material can rub off on the puppy’s mouth and contaminate the sample
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.