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Cystinuria Type 3 [Bulldog Risk Factor Variant 2&3]

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Test Overview:

Avoid breeding two carriers to prevent producing affected puppies. Employ comprehensive genetic screening including SLC3A1 and SLC7A9 to fully assess risk. Select breeding pairs carefully to reduce disease prevalence while preserving breed genetic diversity.

Category:

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

Gene:

SLC3A and SLC7A9

Variant Detected:

c.574A>G (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 with Incomplete Penetrance

Research Citation(s):

Harnevik L, Hoppe A, Soderkvist P. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome. 2006 Jul;17(7):769-76. [PubMed: 16845473]

Associated Breed(s):

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

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