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Cystinuria Type 3 [Bulldog Risk Factor Variant 1]

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Test Overview:

Breeders should use genetic testing to avoid mating two carriers, as this can produce affected puppies with cystinuria. Selection against the mutant alleles in breeding stock is recommended to reduce disease prevalence gradually while considering genetic diversity. As multiple mutations contribute to the disease, comprehensive genetic screening covering SLC3A1 and SLC7A9 mutations is ideal.

Category:

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

Gene:

SLC3A1

Variant Detected:

c.574A>G (causing p.Ile192Val in exon 2) and c.2092A>G (p.Ser698Gly in exon 10)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Associated Breed(s):

American Bulldog , Australian Bulldog, British Bulldog, Bullmastiff, French Bulldog, Southern Cross Bulldog,

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