Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1btm1Mya mutation
(0 available);
any
Hnf1b mutation
(16 available)
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mortality/aging
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• no live homozygous mutant embryos are obtained after E7.5
• only resorbed tissues are detected after E8.5
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embryo
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• at E7.5, homozygotes display no signs of gastrulation, although some embryos are able to undergo cavitation
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• at E7.5, mutant embryonic tissues are highly degenerated or disorganized, resembling a mass of undifferentiated cells surrounded by trophoblastic tissues
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• although morphologically normal up to E6.5, mutant embryos appear significantly smaller than wild-type embryos at E7.5
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• at E7.5, all homozygotes display embryonic tissue disorganization of variable severity
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• some mutant embryos fail to undergo cavitation by E7.5
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• at E7.5, all homozygotes display extraembryonic tissue disorganization of variable severity
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• at E7.5, homozygotes exhibit impaired visceral endoderm specialization, as shown by loss of late endodermal marker expression, absence of columnar epithelial cells, and a uniform cuboidal cell morphology reminiscent of E6.5 embryos
• in culture, mutant ES cells fail to fully differentiate into visceral endoderm, as shown by loss of late endodermal marker expression
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growth/size/body
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• although morphologically normal up to E6.5, mutant embryos appear significantly smaller than wild-type embryos at E7.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1btm1Mya mutation
(0 available);
any
Hnf1b mutation
(16 available)
Hnf1btm3Mya mutation
(0 available);
any
Hnf1b mutation
(16 available)
Tg(Alb1-cre)7Gsc mutation
(1 available)
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cellular
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• at 2 months, mutant livers display hepatocyte necrosis and oval cell proliferation
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mortality/aging
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• despite the severity of their phenotype, most mutant mice survive for several months
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liver/biliary system
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• mutants exhibit abnormal intrahepatic bile duct (IHBD) differentiation and morphogenesis, resulting in persistence of the ductal plate and a highly disorganized biliary system
• in addition, mutant livers show absence of interlobular arteries in portal tracts, suggesting a link between arterial and biliary development within the liver
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• at 2 months, mutant livers display hepatocyte necrosis and oval cell proliferation
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• at 2 months, mutant extrahepatic biliary tracts display epithelial abnormalities
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• in extreme cases, the cystic duct is completely dilated and no duct is clearly identifiable
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• at 2 months, mutants exhibit dysplasia of the larger intrahepatic bile ducts (IHBDs) and a reduction, or paucity, of small IHBDs
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• absence of identifiable IHBDs is already evident at P7, indicating lack of formation of interlobular bile ducts
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• at 2 months, mutant gallbladders exhibit epithelial dysplasia
• in the mutant gallbladder, the normal cuboidal epithelium is replaced in some areas by a stratified squamous epithelium or mucus-secreting cells
• nonetheless, mutant gallbladders are filled with bile and communicate with the liver and the duodenum
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• mutant mice exhibit fully penetrant liver hypertrophy
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• at 2 months, mutant mice exhibit liver inflammation
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• mutant mice exhibit fully penetrant chronic jaundice
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homeostasis/metabolism
growth/size/body
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• body weight differences are detected as early as P2 and increase with time, reaching a growth plateau at weaning
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• mutant mice display severe postnatal growth retardation
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• mutant mice exhibit fully penetrant liver hypertrophy
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muscle
immune system
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• at 2 months, mutant mice exhibit liver inflammation
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endocrine/exocrine glands
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• at 2 months, mutant extrahepatic biliary tracts display epithelial abnormalities
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• in extreme cases, the cystic duct is completely dilated and no duct is clearly identifiable
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• at 2 months, mutants exhibit dysplasia of the larger intrahepatic bile ducts (IHBDs) and a reduction, or paucity, of small IHBDs
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• absence of identifiable IHBDs is already evident at P7, indicating lack of formation of interlobular bile ducts
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• at 2 months, mutant gallbladders exhibit epithelial dysplasia
• in the mutant gallbladder, the normal cuboidal epithelium is replaced in some areas by a stratified squamous epithelium or mucus-secreting cells
• nonetheless, mutant gallbladders are filled with bile and communicate with the liver and the duodenum
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Analysis Tools