Phenotypes Associated with This Genotype

Genotype
MGI:6388659

• 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