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Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis of cystine. Cystinuria is caused by defects in the amino acid transport system b 0,+  (i.e. the rBAT/b 0,+ AT heteromeric complex). Mutations in  SLC3A1 , encoding rBAT, cause cystinuria type A, characterized by a silent phenotype in heterozygotes (phenotype I). Mutations in  SLC7A9 , encoding b 0,+ AT, cause cystinuria type B, in which heterozygotes in most cases hyperexcrete cystine and dibasic amino acids (phenotype non-I). To facilitate  in vivo  investigation of b 0,+ AT in cystinuria,  Slc7a9  knockout mice have been generated. Expression of b 0,+ AT protein is completely abolished in the kidney of  Slc7a9  −/−  mice (‘ Stones ’). In contrast,  Stones  expressed significant amounts of rBAT protein, which is covalently linked to unidentified light subunit(s).  Stones  mice present a dramatic hyperexcretion of cystine and dibasic amino acids, while  Slc7a9  +/−  mice show moderate but significant hyperexcretion of these amino acids (phenotype non-I). Forty-two per cent of  Stones  mice develop cystine calculi in the urinary system. Calculi develop during the first month of life and grow throughout the life span of the animals. Histopathology in kidney reveals typical changes for urolithiasis (tubular and pelvic dilatation, tubular necrosis, tubular hyaline droplets and chronic interstitial nephritis). The fact that some  Stones  mice, generated in a mixed genetic background, develop cystine calculi from an early age, while others do not develop them in their first year of life, suggests the involvement of modifier genes in the lithiasis phenotype. Thus,  Stones  provide a valid model of cystinuria which can be used in the study of genetic, pharmacological and environmental factors involved in cystine urolithiasis.

Slc7a9 -deficient mice develop cystinuria non-I and cystine urolithiasis