Phenotypes Associated with This Genotype

Genotype
MGI:3583531

• Allelic Composition: Cys1^cpk/Cys1^cpk
• Genetic Background: C.B6(Cg)-Cys1^cpk

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

renal/urinary system

kidney cyst ( J:99616 )

• after birth cysts shift to the collecting ducts and cysts are lined with a single layer of epithelial cells with polygonal principal-like cell appearance

• EGF treatment reduces the severity of kidney cysts

kidney cortex cyst ( J:99616 )

• newborns have cysts in the inner cortical proximal tubules

enlarged kidney ( J:99616 )

• rapid kidney enlargement after birth associated with development of cysts in the collecting ducts

• EGF treatment reduced kidney size but did not improve kidney function

homeostasis/metabolism

increased blood urea nitrogen level ( J:99616 )

• significant by 10 days of age

endocrine/exocrine glands

dilated pancreatic duct ( J:99616 )

• dilation of the pancreatic ducts present in newborns

biliary cyst ( J:99616 )

• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis

dilated bile duct ( J:99616 )

• common bile duct dilation

• EGF treatment reduces bile duct dilation

absent pancreatic islets ( J:99616 )

• almost no islets of Langerhans seen

pancreas fibrosis ( J:99616 )

• periductal fibrosis

liver/biliary system

biliary cyst ( J:99616 )

• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis

dilated bile duct ( J:99616 )

• common bile duct dilation

• EGF treatment reduces bile duct dilation

liver fibrosis ( J:99616 )

• peridcuctal fibrosis associated with intrahepatic biliary duct cysts

growth/size/body

biliary cyst ( J:99616 )

• intrahepatic biliary duct cysts associated with peridcuctal hyperplasia and fibrosis

kidney cyst ( J:99616 )

• after birth cysts shift to the collecting ducts and cysts are lined with a single layer of epithelial cells with polygonal principal-like cell appearance

• EGF treatment reduces the severity of kidney cysts

kidney cortex cyst ( J:99616 )

• newborns have cysts in the inner cortical proximal tubules

decreased body size ( J:99616 )

• seen at 5 and 15 days of age

enlarged kidney ( J:99616 )

• rapid kidney enlargement after birth associated with development of cysts in the collecting ducts

• EGF treatment reduced kidney size but did not improve kidney function

digestive/alimentary system

dilated pancreatic duct ( J:99616 )

• dilation of the pancreatic ducts present in newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:99616