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Epidermolysis Bullosa Simplex (Feline)

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Test Overview:

Genetic testing of breeding cats is essential to avoid producing affected homozygous kittens. Carrier status is unknown but presumably heterozygotes are asymptomatic. Avoid dual carrier matings, as it may result in affected offspring. Select breeding cats negative for the KRT14 mutation. Use informed breeding programs to reduce mutation frequency while maintaining diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

KRT14

Variant Detected:

c.979C>T (p.Gln327)

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:

Autosomal Recessive

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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