Copper Toxicosis (ATP7A) (Labrador Retriever Type)

Category:

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

Gene:

ATP7A

Variant Detected:

chr22:225112 (canFam3): G>A; chrX:60279237 (canFam3): C>T

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, Gill Yadvinder, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TSGAM, Martens ECCP, Festa P, Chesi G, van de Sluis B, Houwen RHJH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PAJ, Rothuizen J. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech. 2016 Jan;9(1):25-38. doi: 10.1242/dmm.020263. [PubMed: 26747866] Fieten H, Leegwater PA, Watson AL, Rothuizen J. Canine models of copper toxicosis for understanding mammalian copper metabolism. Mamm Genome. 2012 Feb;23(1-2):62-75. [PubMed: 22147205] Takanosu M, Suzuki K. Genotype frequency of ATP7A and ATP7B mutation-related copper-associated hepatitis in a Japanese guide dog Labrador retriever population. J Vet Med Sci. 2022 Jan 7;84(1):16-19. doi: 10.1292/jvms.21-0369. Epub 2021 Nov 23. [PubMed: 34819411]