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Phenotypes Associated with This Genotype
Genotype
MGI:6356371
Allelic
Composition
Jag1Ndr/Jag1Ndr
Genetic
Background
involves: C3HeB/FeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1Ndr mutation (0 available); any Jag1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: mice are recovered at a rate of 20% at E15.5, 10% from P10, and 5% in adults on a mixed C3HeB/FeJ and C57BL/6 background compared to 100% lethality around E12 on a C3HeB/FeJ background
• mice are recovered at a rate of 5% in adults
• mice are recovered at a rate of 20% at E15.5
• 20% of mice die within the first 20 days

growth/size/body
• mice show a tendency toward altered craniofacial proportions, with a reduced snout length but normal eye-nose length
• however, no obvious vertebral malformations are seen
• adults are 30% smaller than control adults
• mice fail to gain weight as rapidly as controls after birth, with a significant difference from P2

cardiovascular system
• persistent absence of hepatic arteries
• atrial septation defects are present in E15.5 and P0 mice
• ventricular septation defects are present in E15.5 and P0 mice

craniofacial
• mice show a tendency toward altered craniofacial proportions, with a reduced snout length but normal eye-nose length
• however, no obvious vertebral malformations are seen

digestive/alimentary system
• postnatal pups excrete yellow stools

endocrine/exocrine glands
• postnatal mice exhibit ductopenia which is no longer seen in adults
• hilar portal regions have no discernible mature bile ducts at P0 while 3.3% of wild-type hilar portal veins have adjoining mature bile ducts
• at P10, bile ducts are rarely found in livers, while portal veins in wild-type livers have 1-2 adjacent mature bile ducts
• lumenized bile ducts are seen in adult livers, however their morphology is disrupted
• adult mice have fewer well-formed bile ducts and instead have clusters of biliary cells
• marker analysis indicates that bile duct differentiation is dysregulated in newborns
• marker analysis indicates aberrations in cholangiocyte polarity

homeostasis/metabolism
• increase in direct bilirubin levels at P10, which are normal in adults
• increase in alkaline phosphatase levels at P10, which are normal in adults
• increase in aspartate aminotransferase levels at P10 and in adults
• decrease in albumin levels at P10

liver/biliary system
• postnatal mice exhibit ductopenia which is no longer seen in adults
• hilar portal regions have no discernible mature bile ducts at P0 while 3.3% of wild-type hilar portal veins have adjoining mature bile ducts
• at P10, bile ducts are rarely found in livers, while portal veins in wild-type livers have 1-2 adjacent mature bile ducts
• lumenized bile ducts are seen in adult livers, however their morphology is disrupted
• adult mice have fewer well-formed bile ducts and instead have clusters of biliary cells
• marker analysis indicates that bile duct differentiation is dysregulated in newborns
• marker analysis indicates aberrations in cholangiocyte polarity
• liver organoids grow less well in culture, with some collapsing in culture after 5-6 days, indicating structural instability
• persistent absence of hepatic arteries
• serum biochemistry at P10 indicates that liver function is compromised
• however, adult mice have functional recovery of the liver, indicating a transient biliary phenotype
• neonates exhibit strong jaundice, however surviving adults are not jaundiced

vision/eye
• bilateral iris deformation with dorsal constriction at E13.5, which progresses to severe deformities and occasionally microphthalmia by P10
• lenses are slightly smaller at P10
• occasional microphthalmia is seen by P10, and in 30% of adults

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alagille syndrome DOID:9245 OMIM:118450
OMIM:610205
J:277897


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory