Mouse Genome Informatics
hm1
    Arl3Gt(OST263303)Lex/Arl3Gt(OST263303)Lex
involves: 129S5/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• ones born alive all died by 3 weeks of age
• homozygous mutant mice were born at a sub-Mendelian ratio

growth/size
• ones born alive are small and sickly
• ones born alive had markedly swollen abdomen

renal/urinary system
• 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
• a pronounced distention of their flanks caused by severe bilateral renomegaly within a few days of birth
• translucent and minute cystic structures throughout the renal cortex and medulla

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
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:107331