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Myotonia Congenita (Feline)

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Test Overview:

Genetic testing for the CLCN1 mutation is essential for breeding cats to identify carriers and affected individuals. Cats with two copies of the mutation (affected) should not be bred to prevent affected kittens. Cats with one copy of the mutation (carriers) can be bred, but only to cats clear of the mutation to avoid producing affected kittens. Avoid breeding two carriers together as this risks 25% affected kittens in a litter. Test kittens from carrier matings before using them for breeding. Responsible breeders should share genetic test results for informed breeding decisions and to reduce prevalence while maintaining genetic diversity. Genetic testing of the CLCN1 gene can determine whether or not a cat is a genetic carrier of Myotonia Congenita.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

CLCN1

Variant Detected:

c.1930+1G>T

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

Research Citation(s):

PLoS One. 2014 Oct 30;9(10):e109926. doi: 10.1371/journal.pone.0109926. eCollection 2014. Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA. A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One. 2014 Oct 30;9(10):e109926. PubMed PMID: 25356766 PubMed: 25356766

Associated Breed(s):

All Breeds (Feline),
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