Pkd1 T3041R: Pkd1 Cleavage-deficient Mouse

Scientists at JHU have created a novel mouse model of polycystic kidney disease (PKD), one of the most common human genetic disorders. The mice are deficient in Pdk1 cleavage due to missense mutations with the polycystin-1 gene. The mice develop polycystic disease during neo-natal development but unlike previous models of PKD, the mice survive until 3 months of age. Description (Set) Proposed Use (Set) PKD is one of the most common hereditary diseases in the US, affecting more than 500,000 Americans, while over 5 million persons worldwide are at risk for the disease. The prolonged survivability of the genetic lesion in this mouse model offers the opportunity to screen for therapeutic interventions for the disease and allows more time for further breeding of the trait into other mouse strains for use in analyzing the effect of disease modifying loci.

Inventor(s): Qian, Feng

Type of Offer: Licensing

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