Phenotypes associated with this allele

• Allele Symbol: Pkhd1^em1Mrug
• Allele Name: endonuclease-mediated mutation 1, Michal Mrug
• Allele ID: MGI:6388657
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkhd1^em1Mrug/Pkhd1^em1Mrug	involves: C57BL/6J	MGI:6388659
ht2	Pkhd1^em1Mrug/Pkhd1^+	involves: C57BL/6J	MGI:6388658

Genotype
MGI:6388659

hm1

• Allelic Composition: Pkhd1^em1Mrug/Pkhd1^em1Mrug
• Genetic Background: involves: C57BL/6J

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

endocrine/exocrine glands

dilated bile duct ( J:281464 )

• mice at 13-17 month of age show a high number of dilated biliary ducts in portal fields surrounded by inflammatory infiltrates and fibrosis

liver/biliary system

dilated bile duct ( J:281464 )

• mice at 13-17 month of age show a high number of dilated biliary ducts in portal fields surrounded by inflammatory infiltrates and fibrosis

liver fibrosis ( J:281464 )

• 13-17 month old mice develop severe signs of congenital hepatic fibrosis

• however, the liver parenchyma surrounding portal fields is intact

renal/urinary system

abnormal kidney morphology ( J:281464 )

♀ • 13 to 17 month old females, but not males, develop renal changes that resemble medullary sponge kidney

dilated proximal convoluted tubule ( J:281464 )

♀ • 13 to 17 month old females, but not males, show ectasia of proximal tubules

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 4		DOID:0080212	OMIM:263200	J:281464

Genotype
MGI:6388658

ht2

• Allelic Composition: Pkhd1^em1Mrug/Pkhd1⁺
• Genetic Background: involves: C57BL/6J

endocrine/exocrine glands

bile duct proliferation ( J:281464 )

• the number of bile ducts is increased in 13 to 17 month old mice

biliary cyst ( J:281464 )

• 13-17 month old mice show isolated liver cysts with an epithelial lining that closely resembles biliary epithelia

dilated bile duct ( J:281464 )

• 13 to 17 month old mice occasionally present with dilated biliary ducts

• however, there is minimal inflammatory infiltrates, or fibrosis of portal fields, and surrounding liver parenchyma appears intact

liver/biliary system

bile duct proliferation ( J:281464 )

• the number of bile ducts is increased in 13 to 17 month old mice

biliary cyst ( J:281464 )

• 13-17 month old mice show isolated liver cysts with an epithelial lining that closely resembles biliary epithelia

dilated bile duct ( J:281464 )

• 13 to 17 month old mice occasionally present with dilated biliary ducts

• however, there is minimal inflammatory infiltrates, or fibrosis of portal fields, and surrounding liver parenchyma appears intact

liver cyst ( J:281464 )

• 13 to 17 month old mice develop cystic liver that range from multiple solitary cysts to Caroli disease or congenital hepatic fibrosis-like pattern

renal/urinary system

abnormal kidney morphology ( J:281464 )

♀ • 13 to 17 month old females develop renal changes that resemble medullary sponge kidney

abnormal kidney cortex morphology ( J:281464 )

♀ • kidneys show cortical thinning in 13-17 month old females

dilated proximal convoluted tubule ( J:281464 )

♀ • 13 to 17 month old females, but not males, show ectasia of proximal tubules

growth/size/body

biliary cyst ( J:281464 )

• 13-17 month old mice show isolated liver cysts with an epithelial lining that closely resembles biliary epithelia

liver cyst ( J:281464 )

• 13 to 17 month old mice develop cystic liver that range from multiple solitary cysts to Caroli disease or congenital hepatic fibrosis-like pattern

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 4		DOID:0080212	OMIM:263200	J:281464