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

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

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