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Phenotypes Associated with This Genotype
Genotype
MGI:3702089
Allelic
Composition
Pkhd1tm1Rbu/Pkhd1tm1Rbu
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm1Rbu mutation (0 available); any Pkhd1 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts (J:112509)
• however, extrahepatic bile duct and gallbladder morphology are not affected (J:112509)
• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts (J:112509)
• however, extrahepatic bile duct and gallbladder morphology are not affected (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)
• variable progressive polycystic transformation of the liver (J:112509)
• cystic liver degeneration varies from multiple small cysts to sometimes huge liver cysts (J:112509)
• 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 (J:112509)
• variable progressive polycystic transformation of the liver (J:112509)
• cystic liver degeneration varies from multiple small cysts to sometimes huge liver cysts (J:112509)
• 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 (J:112509)
• progressive portal fibrosis (J:112509)
• however, only in mice with end-stage cystic transformation is any abnormality in the liver parenchyme detected (J:112509)
• progressive portal fibrosis (J:112509)
• however, only in mice with end-stage cystic transformation is any abnormality in the liver parenchyme detected (J:112509)

renal/urinary system
N
• no polycystic transformation or impairment of kidney function is seen unlike in human patients with mutations in PKHD1 (J:112509)
• 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)
• 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 (J:112509)
• however, extrahepatic bile duct and gallbladder morphology are not affected (J:112509)
• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts (J:112509)
• however, extrahepatic bile duct and gallbladder morphology are not affected (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)
• severe malformation of the ductal plate with retention of the embryonic architecture of bile ducts surrounding the portal veins (J:112509)
• 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 (J:112509)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory