Analysis Tools
mortality/aging
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• no pups survive beyond P0; newborns are either stillborn or die within hours after birth
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liver/biliary system
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• only cells lining the portal side of the bile duct have primary cilia in E18.5 liver unlike in wild-type livers in which primary cilia are on the apical surface of every biliary epithelial cell
• mutant biliary epithelium shows fewer ciliated cholangiocytes
• cilia are shorter, have bulbous formations, or appear duplicated and have abnormal kinks at the proximal portion of the cilium
• distortions in cilia localize to the first third of the cilium, where the inversin compartment is located
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• the biliary epithelium appears low cuboidal and flattened in E18.5 livers in the central and peripheral regions instead of the characteristic columnar epithelium
• mutant bile ducts are lined by a poorly differentiated epithelium at E18.5
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• mutant bile ducts appear dilated at E18.5
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• marker analysis indicates defective bile duct morphogenesis in the liver and defective cholangiocyte differentiation
• the portal tracts in livers remain undifferentiated and incompletely remodeled at birth, consisting of multiple undifferentiated and atrophic bile ducts per portal vein
• mutants show a lack of establishment of apical polarity in the parenchymal side of the biliary epithelium in livers
• ductal plate remodeling defects in the liver characterized by bile duct morphogenesis defects and maintenance of multiple undifferentiated bile ducts per portal vein
• the peribiliary mesenchyme is absent in E18.5 livers
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• portal areas in livers show a spectrum of degenerative phenotypes, including collapsed bile ducts surrounding an obliterated portal vein, or enlarged heavily fibrotic portal areas
• the portal mesenchyme is reduced in E18.5 livers
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small liver
(
J:307271
)
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• liver appears reduced in size in E18.5 mutants
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• necrotic areas are frequently seen in the periphery of the liver at E18.5
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• mutants develop periportal liver fibrosis by E18.5
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cardiovascular system
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• all mice show a range of complex congenital heart defects, including atrioventricular septal defects, ventricular hypertrophy and overriding aorta
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• ventricular hypertrophy
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endocrine/exocrine glands
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• only cells lining the portal side of the bile duct have primary cilia in E18.5 liver unlike in wild-type livers in which primary cilia are on the apical surface of every biliary epithelial cell
• mutant biliary epithelium shows fewer ciliated cholangiocytes
• cilia are shorter, have bulbous formations, or appear duplicated and have abnormal kinks at the proximal portion of the cilium
• distortions in cilia localize to the first third of the cilium, where the inversin compartment is located
|
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• marker analysis indicates defective bile duct morphogenesis in the liver and defective cholangiocyte differentiation
• the portal tracts in livers remain undifferentiated and incompletely remodeled at birth, consisting of multiple undifferentiated and atrophic bile ducts per portal vein
• mutants show a lack of establishment of apical polarity in the parenchymal side of the biliary epithelium in livers
• ductal plate remodeling defects in the liver characterized by bile duct morphogenesis defects and maintenance of multiple undifferentiated bile ducts per portal vein
• the peribiliary mesenchyme is absent in E18.5 livers
|
|
• the biliary epithelium appears low cuboidal and flattened in E18.5 livers in the central and peripheral regions instead of the characteristic columnar epithelium
• mutant bile ducts are lined by a poorly differentiated epithelium at E18.5
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• mutant bile ducts appear dilated at E18.5
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growth/size/body
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• P0 pups show the formation of glomerular cysts in the kidneys
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heterotaxia
(
J:307271
)
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• 90% of E18.5 fetuses exhibit heterotaxia and situs inversus with the apex of the heart and the stomach rotated to the right side of the body
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• 66% show abdominal situs inversus
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• 28% show right isomerism of lung
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• 52% exhibit situs ambiguus or heterotaxia
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• 38% exhibit situs inversus
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renal/urinary system
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• P0 pups show the formation of glomerular cysts in the kidneys
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respiratory system
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• 28% show right isomerism of lung
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cellular
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• only cells lining the portal side of the bile duct have primary cilia in E18.5 liver unlike in wild-type livers in which primary cilia are on the apical surface of every biliary epithelial cell
• mutant biliary epithelium shows fewer ciliated cholangiocytes
• cilia are shorter, have bulbous formations, or appear duplicated and have abnormal kinks at the proximal portion of the cilium
• distortions in cilia localize to the first third of the cilium, where the inversin compartment is located
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