Mutations in human PKHD1 cause polycystic kidney disease that in some cases is accompanied by Caroli disease, a polycystic liver disease that includes hepatic fibrosis, dilated biliary ducts, and portal hypertension. The cyli spontaneous indel in exon 48 is a deletion of GG and insertion of T that causes a frameshift and premature stop codon 15 amino acids downstream (p.G2530VfsTer15). Pkhd1 was found to encode 22 alternative transcripts in wild-type mice and the cyli mutation causes changes in these transcript profiles. Mice homozygous for Pkhd1cyli have progressive cystic liver disease with an age of onset of approximately four weeks that includes biliary dysgenesis with ductal plate malformation. However, unlike the human disease or some null mouse alleles of Pkdh1, no renal cystic disease was found in homozygotes assessed between 8 and 11 weeks of age. The cystic liver lesions are more extensive in females than males. Homozygotes are predominantly viable and fertile and can be used to maintain a strain. Breeder pairs should be replaced by their third litter because of liver degeneration in the females.

This spontaneous indel in exon 48 provides a model of the polycystic liver disease consistent with Caroli disease, but no renal cystic disease was found in homozygotes assessed between 8 and 11 weeks of age.

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D2.Cg-(D4Mit42-D4Smh6b) Pkhd1<cyli>/EiJ - Embryo