Accumulation of cystine in kidney, which may further precipitate to form calculi (stones) and inflammation of the system
Symptoms Difficulties to urinate, there may be blood in urine. Untreated, this disease can lead to kidney failure and death of the dog
Gene involved SLC3A1
Mutation tested c.586C>T
Transmission mode : Autosomal recessive
Publication : Henthorn et al. (2000). Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
Gene involved SLC3A1
Mutation tested c.350delG
Transmission mode : Autosomal recessive
Publication : Brons et al. (2013). SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
Gene involved SLC3A1
Mutation tested c.1095_1100delACCACC
Transmission mode : Autosomal dominant
Publication : Brons et al. (2013). SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
Gene involved SLC7A9
Mutation tested c.964G>A
Transmission mode : Autosomal dominant
Publication : Brons et al. (2013). SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.