1276: Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests

Grant Status: Closed

Grant Amount: $182,683
Paula S. Henthorn, PhD; University of Pennsylvania
May 1, 1996 - May 15, 2000


Breed(s): Newfoundland
Research Program Area: Kidney & Urological Disease
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Project Summary

The outcome of this research was the development of a genetic test for cystinuria in Newfoundlands. Cystinuria is a potentially life-threatening disease that leads to the formation of cystine urinary tract stones in dogs and humans. It has been reported in at least 60 breeds. In the first two years of this study, researchers identified the gene whose mutation is the cause of cystinuria in Newfoundlands. A genetic test was developed that identifies affected animals and carriers so that breeders can make informed breeding decisions. In the second two years of the grant, the researchers sought to find out whether the same gene is responsible for cystinuria in other breeds. They collected DNA from affected dogs in 11 breeds, as well as Mastiffs and English Bulldogs with no signs of the disease. They determined that it is unlikely that the gene responsible for cystinuria in Newfoundlands causes it in Mastiffs and Bulldogs. Research continues to screen additional breeds for mutations in two different genes that cause cystinuria in humans and to develop additional gene tests.


Bannasch, D., & Henthorn, P. S. (2009). Changing Paradigms in Diagnosis of Inherited Defects Associated with Urolithiasis. Veterinary Clinics of North America: Small Animal Practice, 39(1), 111–125. https://doi.org/10.1016/j.cvsm.2008.09.006

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