Conditional Mouse Model of Polycystic Kidney Disease (PKD2Cond)
JHU REF: C11721
Material available at Jackson Laboratory (www.jax.org)
Stock No: 017292 - B6.129X1(Cg)-Pkd2tm1.1Tjwt/J
Invention novelty: This tangible material is a transgenic mouse strain with a mutant Pkd2 (Polycystic Kidney Disease 2) gene. This Pkd2 conditional mouse model may be used to investigate the role and function of the Pkd2 gene which is responsible for many cases of autosomal dominant polycystic kidney disease cases.
Value Proposition: Autosomal Dominant Polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases and is caused by mutations in Pkd1 and Pkd2. The Pkd2cond mouse has the following advantages:
• Animal Model for human ADPKD
• Useful to test and screen potential therapies for APKD
• Implications for study of placental and vascular development
Technical Details: Johns Hopkins University researchers have developed a genetically modified mouse Pkd2cond strain in which loxP sites flank exons 11-13 of the Pkd2 gene. When a Pkd2 flox mouse is bred with a tissue specific Cre mouse strain, Pkd2 function can be inactivated or turned off in a tissue specific and/or temporal manner. Individuals with ADPKD develop progressive cyst formation and enlargement as well as liver cyst and cardiovascular complications. Pkd2 encodes Polycystin-2, a Ca2+-permeable, TRP-like channel that forms part of a receptor channel complex. Interestingly, biallelic Pkd1 or Pkd2 knockout is embryonic lethal although renal function is not required to complete gestation. The Pkd2 flox mice together are useful tools to study the role of Pkd proteins during embryonic development and the progression of ADPKD.
ASSOCIATED PUBLICATIONS
■ PLoS One. 2010 Sep 16;5(9); e12821■
