A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik‐Schöneborn, Klaus Zerres, Reinhard Buettner – 19 April 2005 – 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.