Cystinuria Type 3 (Bulldog Type Risk Factor, Variants 2 and 3)

General Information: Cystinuria Type 3 (Bulldog Type Risk Factor, Variants 2 and 3) in dogs is characterized by the abnormal reabsorption of cystine in the kidneys, leading to the formation of cystine stones in the urinary tract. This genetic disorder often manifests with symptoms such as difficulty urinating, blood in the urine, and frequent urination. As the disease progresses, affected dogs may experience urinary obstruction, causing severe pain, kidney damage, and potentially life-threatening complications. The presence of cystine stones can significantly impact the affected dog’s quality of life due to discomfort and recurrent urinary issues.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Cystinuria Type 3 involves identifying mutations in the SLC3A1 and SLC7A9 genes, which are responsible for cystine transport in the kidneys. Cystinuria Type 3 is inherited in an autosomal recessive manner, meaning that dogs need to inherit two copies of the mutated gene, one from each parent, to exhibit symptoms of the disease. Carrier dogs, with only one copy of the mutated gene, typically do not show clinical signs but can pass the mutation to their offspring. When two carriers are bred, there is a 25% chance that each puppy will be affected by the disease and a 50% chance that each will be a carrier. To prevent the propagation of Cystinuria Type 3, it is recommended not to breed carriers together. Implementing responsible breeding practices through reliable genetic testing can help eliminate this debilitating mutation from the gene pool, ensuring healthier future generations of dogs.