Phenotypes Associated with This Genotype

Genotype
MGI:5430995

• Allelic Composition: Pkhd1^tm1Sswi/Pkhd1^tm1Sswi
• Genetic Background: B6.Cg-Pkhd1^tm1Sswi

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

endocrine/exocrine glands

abnormal extrahepatic bile duct morphology ( J:186064 )

• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age

abnormal hepatic duct morphology ( J:186064 )

• ductal plate malformation

abnormal intrahepatic bile duct morphology ( J:186064 )

• dilated

dilated bile duct ( J:186064 )

• intrahepatic and extrahepatic

abnormal gallbladder morphology ( J:186064 )

• gallbladder cysts in 2 of 12 mice at 1 year of age

pancreas cyst ( J:186064 )

liver/biliary system

abnormal extrahepatic bile duct morphology ( J:186064 )

• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age

abnormal hepatic duct morphology ( J:186064 )

• ductal plate malformation

abnormal intrahepatic bile duct morphology ( J:186064 )

• dilated

dilated bile duct ( J:186064 )

• intrahepatic and extrahepatic

abnormal gallbladder morphology ( J:186064 )

• gallbladder cysts in 2 of 12 mice at 1 year of age

liver fibrosis ( J:186064 )

• periportal

renal/urinary system

kidney cyst ( J:186064 )

• at 45 days, mice develop cysts in the proximal tubules, collecting ducts and glomeruli that progress during adulthood

• macrocysts are primarily located in the corticomedullary junction

• at 9 months, all mice exhibit severe cystic kidney disease

renal glomerulus cyst ( J:186064 )

renal interstitial fibrosis ( J:186064 )

dilated renal tubule ( J:186064 )

• in the renal cortex and medualla

growth/size/body

pancreas cyst ( J:186064 )

kidney cyst ( J:186064 )

• at 45 days, mice develop cysts in the proximal tubules, collecting ducts and glomeruli that progress during adulthood

• macrocysts are primarily located in the corticomedullary junction

• at 9 months, all mice exhibit severe cystic kidney disease

renal glomerulus cyst ( J:186064 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:186064