Cystinuria II-A for Australian Cattle Dogs and Koolie

Cystinuria is an inherited metabolic disorder of amino acid transport in the kidneys. In affected individuals, cystine accumulates in the urine and leads to cystine crystals and urinary stones formation. These irritate the urinary tract, causing urinary stagnation and increasing the susceptibility of the urinary tract to infection. Clinically, cystinuria is manifested by dark and distinctly foul-smelling urine with an admixture of blood. Urination is painful and often unsuccessful

Cystinuria has been observed in more than 60 dog breeds.  However, it is a genetically heterogeneous disease, and the clinical manifestations vary from breed to breed. In the Australian Hound and Australian Koolie, the disease is caused by a 6 bp deletion in the SLC3A1 gene (c.1095_1100del; p.Thr366_Thr367del). The inheritance of the mutation is autosomal dominant. This means that only one copy of the mutated gene inherited from either parent is sufficient to cause symptoms of the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies

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References:

Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. : SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348