About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2384061
Allelic
Composition
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (8 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 50% of the double heterozygotes died within the first week after birth (J:74574)
• approximately 50% of the double heterozygotes died within the first week after birth (J:74574)

renal/urinary system
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys (J:67157)
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys (J:67157)
• about a quarter of the glomeruli present exhibited capillary aneuryisms (J:74574)
• about a quarter of the glomeruli present exhibited capillary aneuryisms (J:74574)
• greatly reduced (J:74574)
• greatly reduced (J:74574)
• kidneys of the double heterozygotes were about half the size of kidneys from the controls (J:67157)
• kidneys of the double heterozygotes were about half the size of kidneys from the controls (J:67157)

liver/biliary system
• defects in intrahepatic bile duct differentiation (J:74574)
• few morphologically identifiable bile ducts were present (J:74574)
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts (J:74574)
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent (J:74574)
• defects in intrahepatic bile duct differentiation (J:74574)
• few morphologically identifiable bile ducts were present (J:74574)
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts (J:74574)
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent (J:74574)
• abnormal proliferation of cells adjacent to the portal veins and bile pigment accumulation in the hepatic parenchyma (J:74574)
• abnormal proliferation of cells adjacent to the portal veins and bile pigment accumulation in the hepatic parenchyma (J:74574)
• chronic; indicated by elevated levels of alanine aminotransferase and alkaline phosphatase (J:74574)
• chronic; indicated by elevated levels of alanine aminotransferase and alkaline phosphatase (J:74574)

homeostasis/metabolism
• elevated blood urea nitrogen levels (J:74574)
• elevated blood urea nitrogen levels (J:74574)
• elevated levels of alanine aminotransferase, indicative of liver and biliary dysfunction (J:74574)
• elevated levels of alanine aminotransferase, indicative of liver and biliary dysfunction (J:74574)
• elevated levels of alkaline phosphatase, indicative of liver and biliary dysfunction (J:74574)
• elevated levels of alkaline phosphatase, indicative of liver and biliary dysfunction (J:74574)

cardiovascular system
• narrowing of the pulmonary artery; incomplete penetrance; observed in 6 of 9 animals (J:74574)
• narrowing of the pulmonary artery; incomplete penetrance; observed in 6 of 9 animals (J:74574)
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys (J:67157)
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys (J:67157)
• about a quarter of the glomeruli present exhibited capillary aneuryisms (J:74574)
• about a quarter of the glomeruli present exhibited capillary aneuryisms (J:74574)
• dextropositioning (overriding) of the aorta (J:74574)
• dextropositioning (overriding) of the aorta (J:74574)
• incomplete penetrance; observed in 12 of 14 animals (J:74574)
• incomplete penetrance; observed in 12 of 14 animals (J:74574)
• incomplete penetrance; observed in 6 of 14 animals (J:74574)
• incomplete penetrance; observed in 6 of 14 animals (J:74574)
• right ventricular hypoplasia (J:74574)
• right ventricular hypoplasia (J:74574)

growth/size/body

vision/eye
• eye defects similar to those in Jag1tm1Grid homozygous mice (J:74574)
• eye defects similar to those in Jag1tm1Grid homozygous mice (J:74574)

endocrine/exocrine glands
• defects in intrahepatic bile duct differentiation (J:74574)
• few morphologically identifiable bile ducts were present (J:74574)
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts (J:74574)
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent (J:74574)
• defects in intrahepatic bile duct differentiation (J:74574)
• few morphologically identifiable bile ducts were present (J:74574)
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts (J:74574)
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent (J:74574)

Mouse Models of Human Disease
OMIM ID Ref(s)
Alagille Syndrome 1; ALGS1 118450 J:74574


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory