C10754: Mouse Model For Polycystic Kidney Disease Gene Knockout
Novelty:
This technology is a mutant mice containing beta-galactosidase instead of Pkd1 gene to study the pathogenesis of autosomal dominant polycystic kidney disease.
Value Proposition:
Autosomal dominant polycystic kidney disease is characterized by cyst formation in the kidney and other organs and results from mutations of PKD1 or PKD2. Gene targeting has been used to create a variety of lines of mice with Pkd1 mutations that share many common features, and can be used to study the effect of various therapeutic interventions on disease progression of PKD. Other advantages include:
• Useful for studying the functional consequences of pkd1 loss
Technical Details:
Johns Hopkins researchers have developed a mouse model with Pkd1 functional null allele. They have replaced most of exon 2 and all of exon 3 of the mouse Pkd1 gene with a beta-galactosidase reporter gene. This results in expression of the b-gal protein regulated by the endogenous Pkd1 promoter as well as inactivation of the Pkd1 allele. These homozygous mutants die in utero with multiple abnormalities including vascular disease, pancreatic cysts, renal cysts and placental abnormalities.
Looking for Partners:
To license this transgenic mouse as a research tool to study polycystic kidney disease.
Stage of Development:
Prototype
Data Availability:
Under CDA/NDA
Publications/Associated Cases:
Cell, 109:157-168, 2002
J Am Soc Nephrol. 2004 Dec;15(12):3035-43.
