A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)†

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of liver- and renal-related morbidity and mortality in childhood. Recently, PKHD1, the gene encoding the transmembrane protein polyductin, was shown to be mutated in ARPKD patients. We here describe the first mouse strain, generated by targeted mutation of Pkhd1. Due to exon skipping, Pkhd1ex40 mice express a modified Pkhd1 transcript and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and Kidney Cyst Diseases
• Share to Pediatric Hepatobiliary Diseases and Treatments
• Share to Renal and related cancers