"The Human Molecular Genetics publication describes a prime example of an INGENOtypes® model: biologically well-characterized and an improvement over current models because it is the result of single base pair substitutions in the gene, which produces a phenotype closely representing a human disease state," stated Michael C. Nehls, M.D., Ph.D., Chief Executive Officer at Ingenium. "The publication underscores the value of our models for biomedical research in the areas of disease analysis and drug compound and therapeutic hypotheses testing."
As described in the publication, the mouse model was identified as part of Ingenium's Deductive Genomics
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 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.
"The goal of our research is to better understand the molecular pathway involved with cystinuria type I and this model is a welcome addition because it is the first model that so closely mimics the human disease state," stated Dr. Thomas Knoll, noted specialist in urology research at the University Hospital Mannheim.
The paper, entitled "A Mouse Model for Cystinuria Type I", was published September 1, 2003 in Human Molecular Genetics, Vol. 12. Number 17, 2109-2120. Authors on the paper include T. Peters, C. Thaete, S. Wolf, A. Popp, R. Sedlmeier, J. Grosse, M.C. Nehls, A. Russ and V. Schlueter, all currently or formerly of Ingenium.