Phenotypes Associated with This Genotype

Genotype
MGI:3583532

• Allelic Composition: Cys1^cpk/Cys1^cpk
• Genetic Background: D2J.B6(Cg)-Cys1^cpk

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

renal/urinary system

kidney cyst ( J:99620 )

• multiple cysts of varying size that obscure the demarcation between the cortex and medulla

• cysts become larger with age and are initially found in the proximal tubules epithelial intercellular spaces are often focally ballooned

enlarged kidney ( J:99620 )

• kidneys are grossly enlarged

increased kidney weight ( J:99620 )

• kidney wet weight is increased to 1.96g - 2.12g compared to 0.16g - 0.19g in wild-type mice

homeostasis/metabolism

increased circulating creatinine level ( J:99620 )

• mean creatinine is 0.66mg% compared to 0.23mg% in wild-type mice

increased blood urea nitrogen level ( J:99620 )

• mean BUN is 143mg% compared to 21mg% in wild-type mice

endocrine/exocrine glands

abnormal pancreatic acinus morphology ( J:99620 )

• poorly-formed acini are connected to enlarged, dilated ducts

ectopic pancreatic acinar cells ( J:99620 )

• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini

dilated pancreatic duct ( J:99620 )

• poorly-formed acini are connected to enlarged, dilated ducts

abnormal bile duct morphology ( J:99620 )

• bile ductules are somewhat enlarged

absent pancreatic islets ( J:99620 )

• few if any well-formed islets are found

pancreas fibrosis ( J:99620 )

• normal architecture is replaced by sheets of fibrous tissue

liver/biliary system

abnormal bile duct morphology ( J:99620 )

• bile ductules are somewhat enlarged

liver fibrosis ( J:99620 )

• some portal areas have increased fibrous tissue

behavior/neurological

lethargy ( J:99620 )

abnormal suckling behavior ( J:99620 )

• feed poorly during the first few hours of life and generally fail to thrive

digestive/alimentary system

abnormal pancreatic acinus morphology ( J:99620 )

• poorly-formed acini are connected to enlarged, dilated ducts

ectopic pancreatic acinar cells ( J:99620 )

• exocrine cells containing zygomen granules are seen in clusters unassociated with well-formed acini

dilated pancreatic duct ( J:99620 )

• poorly-formed acini are connected to enlarged, dilated ducts

growth/size/body

kidney cyst ( J:99620 )

• multiple cysts of varying size that obscure the demarcation between the cortex and medulla

• cysts become larger with age and are initially found in the proximal tubules epithelial intercellular spaces are often focally ballooned

enlarged kidney ( J:99620 )

• kidneys are grossly enlarged

increased kidney weight ( J:99620 )

• kidney wet weight is increased to 1.96g - 2.12g compared to 0.16g - 0.19g in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:99620