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Cystinuria (Australian Cattle Dog Type)

Cystinuria in Australian Cattle Dogs is a genetic disorder that causes the formation of urinary stones due to an inability to reabsorb cystine, leading to potential urinary tract blockages and infections.

Affected Genes: SLC3A1

Inheritance: Autosomal Dominant

Variant(canFam6):
chr10:46586726: 6 bp deletion ACCACC

Breed: Australian Cattle Dog
Australian Koolie
Australian Stumpy Tail Cattle Dog
Australian Working Kelpie
Koolie
Miniature Australian Cattle Dog

General Information: Cystinuria (Australian Cattle Dog Type) is an inherited kidney disorder affecting breeds such as Australian Cattle Dogs, Australian Koolies, Australian Stumpy Tail Cattle Dogs, Australian Working Kelpies, Koolies, and Miniature Australian Cattle Dogs. The condition arises from a mutation in the SLC3A1 gene, which is crucial for the kidneys to reabsorb the amino acid cystine from the urine. Normally, cystine is reabsorbed in small amounts, but in dogs with this mutation, cystine is not reabsorbed, leading to its accumulation in the urine. This excess cystine can form crystals or stones in the urinary tract, potentially blocking the ureters or urethra and impeding normal urine flow. Symptoms of cystinuria include difficulty urinating, frequent urination in small amounts, and in severe cases, an inability to urinate. While both male and female dogs are equally affected, males are more prone to urinary obstructions due to anatomical differences. If untreated, cystinuria can lead to recurrent urinary tract infections, kidney failure, and even death. Therefore, early diagnosis and management are critical to preventing severe complications and ensuring the affected dog's quality of life.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SLC3A1 gene is essential for identifying carriers of the mutation responsible for Cystinuria in Australian Cattle Dogs. This condition is inherited in an autosomal dominant manner, meaning that a dog needs only one copy of the mutated gene from a parent to develop the disease. Dogs with one copy of the mutation may exhibit mild or no symptoms but can still pass the gene to their offspring. Each puppy born to an affected parent has a 50% chance of inheriting the mutation and developing the disease. When both parents carry the mutation, the likelihood of producing affected offspring increases to 75-100%. Reliable genetic testing is crucial for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with cystinuria. By identifying carriers and making informed breeding decisions, breeders can help eliminate this disorder from dog populations, promoting healthier and more resilient future generations. It is also important to note that other genetic or environmental factors may influence similar conditions, so comprehensive genetic screening and careful management are essential to maintain the overall health of the breed.

References:
Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U. SLC3A1 and SLC7A9 mutations in autosomal recessive and dominant canine cystinuria: A new classification system. J Vet Intern Med. 2013 27(6):1400-1408.