mortality/aging
• uremic mortality is seen in less than 10% of homozygotes at 14-20 days of age
|
renal/urinary system
kidney cyst
(
J:33739
)
• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
|
• seen at 4 days of age
|
homeostasis/metabolism
• azotemia seen at 12 days of age
|
endocrine/exocrine glands
biliary cyst
(
J:33739
)
• all common bile ducts have cysts
|
pancreas cyst
(
J:33739
)
• all pancreatic ducts have cysts
|
liver/biliary system
biliary cyst
(
J:33739
)
• all common bile ducts have cysts
|
liver cyst
(
J:33739
)
• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation
|
immune system
hematopoietic system
growth/size/body
biliary cyst
(
J:33739
)
• all common bile ducts have cysts
|
pancreas cyst
(
J:33739
)
• all pancreatic ducts have cysts
|
kidney cyst
(
J:33739
)
• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
|
liver cyst
(
J:33739
)
• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation
|
• seen at 4 days of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive polycystic kidney disease | DOID:0110861 | J:33739 |