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Spinal Muscular Atrophy

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Test Overview:

Genetic testing is essential for all breeding Maine Coon cats to identify carriers and affected individuals. Affected cats (S/S) should not be bred as all offspring will inherit at least one mutant gene. Breeding carriers (N/S) to normal cats (N/N) is recommended: this produces 50% carriers but no affected kittens. Avoid mating two carriers together, as this results in a 25% chance of affected kittens per litter. Use genetic testing results to gradually reduce the mutant gene frequency while maintaining genetic diversity in the breed. Sharing results openly promotes responsible breeding.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

LIX1

Variant Detected:

140 bp deletion

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

Recommended Screening:

Genetic testing of all breeding animals recommended prior to entering breeding program (e.g. at 4 months to 1 year of age).

Research Citation(s):

Genome Res. 2006 Sep; 16(9): 1084–1090.

Associated Breed(s):

Maine Coon,
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