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Inducing Somatic Pkd1 Mutations in Vivo in a Mouse Model of Autosomal-Dominant Polycystic Kidney Disease

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Technical Report,01 Sep 2015,31 Aug 2016

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Regents of the University of Michigan Ann Arbor United States

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Autosomal Dominant Polycystic Kidney Disease ADPKD is one of the worlds most common life-threatening genetic diseases. Over 95 of diagnosed cases of ADPKD are caused by mutations in PKD1 or PKD2 genes. The overall goal of this project is to identify, at the single cell level, the mechanisms that drive the progression of a homozygous Pkd2 null renal cell towards a pathogenic clonal cyst in a mouse model of ADPKD. We have established two genetic models to induce mutations one during embryogenesis Six2-cre and one in the adultVillin-cre. The embryonic model has generated clones of wild type and mutant cells that persist in the adult. The adult model has failed to induce sufficient recombination. In this report we summarize the results obtained with the embryonic model while proposing an alternative approach to increase recombination efficiency.

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  • Medicine and Medical Research

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