Phenotypes Associated with This Genotype

Genotype
MGI:3702089

• Allelic Composition: Pkhd1^tm1Rbu/Pkhd1^tm1Rbu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

liver/biliary system

abnormal bile duct morphology ( J:112509 )

• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts

• however, extrahepatic bile duct and gallbladder morphology are not affected

abnormal bile duct development ( J:112509 )

• 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

liver cyst ( J:112509 )

• 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

abnormal liver development ( J:112509 )

• 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

liver fibrosis ( J:112509 )

• progressive portal fibrosis

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

renal/urinary system

renal/urinary system phenotype ( J:112509 )

N • no polycystic transformation or impairment of kidney function is seen unlike in human patients with mutations in PKHD1

reproductive system

reproductive system phenotype ( J:112509 )

N • at 5 weeks of age mice are fertile

endocrine/exocrine glands

abnormal bile duct morphology ( J:112509 )

• bile duct proliferation and ectasia accompanied by fibrosis of the portal tracts

• however, extrahepatic bile duct and gallbladder morphology are not affected

abnormal bile duct development ( J:112509 )

• 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

growth/size/body

liver cyst ( J:112509 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal recessive polycystic kidney disease	DOID:0110861	OMIM:263200	J:112509