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Congenital Methemoglobinemia (Poodle and Pomeranian Type)

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Test Overview:

Test all breeding dogs for the CYB5R3 mutation. Avoid breeding two carriers to prevent affected offspring. Breed carriers only to clear dogs. Do not breed affected dogs. Use genetic data to gradually reduce mutation frequency while maintaining genetic diversity.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

CYB5R3

Variant Detected:

chr10:22836951 (canFam3): A/C

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

Shino H, Otsuka-Yamasaki Y, Sato T, Ooi K, Inanami O, Sato R, Yamasaki M. Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. J Vet Intern Med. 2018 Jan;32(1):165-171. [PubMed: 29356095] Zhou S, Tearle R, Jozani RJ, Winra B, Schaaf O, Nicholson A, Peaston A. Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. J Vet Intern Med. 2019 Mar;33(2):868-873. doi: 10.1111/jvim.15435. [PubMed: 30767280]

Associated Breed(s):

Cavoodle, Double Doodle, Dwarf Poodle, Groodalier, Groodle, Miniature Poodle, Moyen Poodle, Pomeranian, Spoodle, Standard Poodle, Toy Poodle,

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