Phenotypes Associated with This Genotype

Genotype
MGI:7568840

• Allelic Composition: Pkhd1^cyli/Pkhd1^cyli
• Genetic Background: D2.Cg-(D4Mit42-D4Smh6b) Pkhd1^cyli/EiJ

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

growth/size/body

biliary cyst ( J:343537 )

liver cyst ( J:343537 )

• progressive cystic liver disease consistent with that seen in Caroli disease. This is more severe in the females than in the males.

enlarged liver ( J:343537 )

renal/urinary system

renal/urinary system phenotype ( J:343537 )

N • distinct from human mutations in this gene or null mouse alleles no histopathologic evidence of renal cystic disease is found in homozygotes examined between 8 and 11 weeks of age

endocrine/exocrine glands

abnormal bile duct development ( J:343537 )

• ductal plate malformation, irregularly shaped and variably dilated bile ducts lined with hyperplastic epithelium

abnormal bile duct epithelium morphology ( J:343537 )

bile duct epithelium hyperplasia ( J:343537 )

biliary cyst ( J:343537 )

dilated bile duct ( J:343537 )

liver/biliary system

liver cyst ( J:343537 )

• progressive cystic liver disease consistent with that seen in Caroli disease. This is more severe in the females than in the males.

enlarged liver ( J:343537 )

abnormal biliary tract morphology ( J:343537 )

abnormal bile duct development ( J:343537 )

• ductal plate malformation, irregularly shaped and variably dilated bile ducts lined with hyperplastic epithelium

abnormal bile duct epithelium morphology ( J:343537 )

bile duct epithelium hyperplasia ( J:343537 )

biliary cyst ( J:343537 )

dilated bile duct ( J:343537 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Caroli syndrome		DOID:0081394		J:343537