Article
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.
The American journal of pathology - 1 Feb 2008
Gallagher Anna-Rachel, Esquivel Ernie L, Briere Tiffany S, Tian Xin, Mitobe Michihiro, Menezes Luis F, Markowitz Glen S, Jain Dhanpat, Onuchic Luiz F, Somlo Stefan
Abstract excerpt
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract. Mutations in the PKHD1 gene are responsible for typical forms of autosomal recessive polycystic kidney disease. We have generated a mouse model with targeted mutation of Pkhd1 by disrupting exon 4, resulting in a mutant transcript with deletion of 66 codons and expression at...
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