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Copper Toxicosis (ATP7B & ATP7A) (Labrador Retriever Type)

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Test Overview:

Test all breeding dogs for ATP7B and ATP7A variants. Avoid breeding two dogs with ATP7B mutation to reduce risk of affected puppies. Mate dogs with ATP7B mutation to those without the mutation. Interpret ATP7A variant status especially in females as it modifies risk. Use genetic information along with pedigree data to maintain genetic diversity while reducing disease incidence. Focus breeding programs not only on mutation status but also consider environmental and dietary factors affecting disease.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

ATPase copper transporting beta (ATP7B) on chromosome 22 ATPase copper transporting alpha (ATP7A) on chromosome X

Variant Detected:

Base Substitution ATP7A: c.980C>T ATP7A: p.Thy327Ile ATP7B: c.4358G>A ATP7B: p.Arg1453Gln

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Complex - Mode Unknown

Research Citation(s):

Fieten H, et al. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. (2016) Dis Model Mech, 9;25-38

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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