mortality/aging
• ones born alive all died by 3 weeks of age
|
• homozygous mutant mice were born at a sub-Mendelian ratio
|
growth/size/body
• widespread cystic dilation of pancreatic ducts and increased cell proliferation
|
kidney cyst
(
J:107331
)
• translucent and minute cystic structures throughout the renal cortex and medulla
|
• ones born alive are small and sickly
|
• ones born alive had markedly swollen abdomen
|
• a pronounced distention of their flanks caused by severe bilateral renomegaly within a few days of birth
|
renal/urinary system
kidney cyst
(
J:107331
)
• translucent and minute cystic structures throughout the renal cortex and medulla
|
• a pronounced distention of their flanks caused by severe bilateral renomegaly within a few days of birth
|
• numerous proliferating cells lined the cystic medullary collecting ducts as well as the cortical tubules and cystic glomeruli
• exhibited abnormal development of renal epithelial tubule structures
|
liver/biliary system
• in the liver the portal tracts were prominent
• ductal plate malformation were present in the biliary tract
|
• exhibited abnormal development of hepatic epithelial tubule structures
• the majority of epithelial cells lining the gall bladder and some extrahepatic bile ducts are proliferating
|
• extrahepatic bile ducts were dilated
|
• severely distended gall bladder, associated with a multifocal acute suppurative cholangitis
|
• multifocal acute suppurative cholangitis
|
endocrine/exocrine glands
• in the liver the portal tracts were prominent
• ductal plate malformation were present in the biliary tract
|
• exhibited abnormal development of hepatic epithelial tubule structures
• the majority of epithelial cells lining the gall bladder and some extrahepatic bile ducts are proliferating
|
• extrahepatic bile ducts were dilated
|
• severely distended gall bladder, associated with a multifocal acute suppurative cholangitis
|
• exhibited abnormal development of pancreatic epithelial tubule structures
|
• very small and consisted of dilated ducts and cysts surrounded by reduced amounts of parenchymal tissue
|
• widespread cystic dilation of pancreatic ducts and increased cell proliferation
|
vision/eye
• exhibit a paucity of outer segments at all retinal locations at postnatal day 9
• disks that were present appeared rudimentary at postnatal day 9
• lacked any detectable cone outer segments at postnatal day 13
• failed to show specific rod staining in outer segments at postnatal day 13
|
• dramatic increase in apoptotic cells in the outer nuclear layer at postnatal day 13
|
nervous system
• exhibit a paucity of outer segments at all retinal locations at postnatal day 9
• disks that were present appeared rudimentary at postnatal day 9
• lacked any detectable cone outer segments at postnatal day 13
• failed to show specific rod staining in outer segments at postnatal day 13
|
immune system
• multifocal acute suppurative cholangitis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive polycystic kidney disease | DOID:0110861 | J:107331 |