Mouse Genome Informatics
hm
    Pkhd1tm1Rbu/Pkhd1tm1Rbu
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
liver/biliary system
• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts
• however, extrahepatic bile duct and gallbladder morphology are not affected
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins
• ductal plate malformation is present at E16.5 starting first at the portal tracts located near the porta hepaticae and expanding to include the peripheral portal tracts in newborns
• progressive portal fibrosis
• however, only in mice with end-stage cystic transformation is any abnormality in the liver parenchyme detected
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins
• ductal plate malformation is present at E16.5 starting first at the portal tracts located near the porta hepaticae and expanding to include the peripheral portal tracts in newborns
• variable progressive polycystic transformation of the liver
• cystic liver degeneration varies from multiple small cysts to sometimes huge liver cysts
• cysts are lined with a single layer of normally differentiated cuboidal epithelial cells with well formed microvilli and cell junctions and normal numbers of mitochondria

renal/urinary system
N
• no polycystic transformation or impairment of kidney function is seen unlike in human patients with mutations in PKHD1 (J:112509)

reproductive system
N
• at 5 weeks of age mice are fertile (J:112509)

endocrine/exocrine glands
• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts
• however, extrahepatic bile duct and gallbladder morphology are not affected
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins
• ductal plate malformation is present at E16.5 starting first at the portal tracts located near the porta hepaticae and expanding to include the peripheral portal tracts in newborns

homeostasis/metabolism
• progressive portal fibrosis
• however, only in mice with end-stage cystic transformation is any abnormality in the liver parenchyme detected

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:112509