A mouse model for cystinuria type I, commonly known as kidney stones, has been developed by German company Ingenium Pharmaceuticals. A description of the model has been published in the journal Human Molecular Genetics.
Ingenium hopes that the availability of a model for cystinuria will accelerate understanding of the disease's pathology and the development of new therapeutics. The mouse was developed using the firm's Deductive Genomics technology, which involves a screen for medically relevant phenotypes in a third generation of mice treated with ENU, a chemical process that generates point mutations in genes. The resulting models are sold under the company INGENOtypes trademark.
This specific INGENOtypes model was located due to raised levels of urea in the blood, a hallmark of impaired renal function. Further research located multiple similarities with the human disease cystinuria type I including the presence of relatively large calculi or stones in the urinary tract of the animal. Ingenium researchers then located the mutation responsible for the disease state in the Slc3a1 gene.
"Mutations in the human Slc3a1 gene have long been associated with cystinuria, demonstrating a direct link and further validation of the mouse as a model for cystinuria type I disease research," said the company.
Ingenium has licensed its INGENOtypes model to the department of urology at the University Hospital Mannheim in Germany. This represents the first such agreement for Ingenium and marks the debut of the firm's precision models platform. No financial terms have been disclosed.