Institute of Genetics

Cystinuria in Irish Terriers and Kromfohrländer

Cystinuria occurs in different breeds of dogs and there are already several genetic tests for specific forms of cystinuria. However, so far no genetic test is available for cystinuria type III, which occurs in Irish Terriers and Kromfohrländer. Cystinuria type III develops only in the presence of a certain level of male hormones. Therefore, only intact males may become clinically affected. Affected males will develop kidney and/or bladder stones that may require surgical removal. Currently, the mode of inheritance of cystinuria is not known. Together with Prof. Dr. Urs Giger from the University of Pennsylvania we aim at the identification of the causative mutation and the development of a genetic test, which will allow the unequivocal diagnosis of carrier animals. For the research we need EDTA blood samples from affected dogs and from healthy males older than 5 years of age. We therefore ask owners, breeders, and veterinarians to donate samples for our research efforts.