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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Notch2tm1Grid
targeted mutation 1, Tom Gridley
MGI:1933205
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Notch2tm1Grid/Notch2tm1Grid involves: 129S1/Sv * C57BL/6J MGI:2384089
cn2
Jag1tm1.1Loo/Jag1+
Notch2tm1Grid/Notch2+
Tg(Alb1-cre)1Khk/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3848170
cx3
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
involves: 129S1/Sv MGI:3778810
cx4
Notch2tm1Grid/Notch2+
Dll1tm1Gos/Dll1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3583235
cx5
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
involves: 129S1/Sv * C57BL/6J MGI:2384061
cx6
Notch1tm1Grid/Notch1tm1Grid
Notch2tm1Grid/Notch2tm1Grid
involves: 129S1/Sv * C57BL/6J MGI:3580251


Genotype
MGI:2384089
hm1
Allelic
Composition
Notch2tm1Grid/Notch2tm1Grid
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2tm1Grid mutation (1 available); any Notch2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• incomplete penetrance; many animals die within the first 24 hours after birth (J:67157)
• incomplete penetrance; many animals die within the first 24 hours after birth (J:67157)
• incomplete penetrance; many embryos die between E12.5-E15.5 and become necrotic (J:67157)
• at stages after E16.5, only 12% of the embryos are homozygous mutants (J:67157)
• incomplete penetrance; many embryos die between E12.5-E15.5 and become necrotic (J:67157)
• at stages after E16.5, only 12% of the embryos are homozygous mutants (J:67157)

renal/urinary system
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• at E15.5, an increased number of apoptotic cells was observed in the kidney (J:67157)
• at E15.5, an increased number of apoptotic cells was observed in the kidney (J:67157)
• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice (J:67157)
• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice (J:67157)
• vascular lesions evident at the cortical surface (J:67157)
• vascular lesions evident at the cortical surface (J:67157)
• cells that expressed markers of podocyte differentiation were clumped together in the center of the glomerulus, and did not form the cup-shaped epithelial layer observed in the controls (J:67157)
• cells that expressed markers of podocyte differentiation were clumped together in the center of the glomerulus, and did not form the cup-shaped epithelial layer observed in the controls (J:67157)
• at E16.5, no morphologically normal glomeruli present (J:67157)
• frequently, the glomerulus appears as a disorganized clump of cells (J:67157)
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• at E16.5, no morphologically normal glomeruli present (J:67157)
• frequently, the glomerulus appears as a disorganized clump of cells (J:67157)
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• few endothelial cells were present in the abnormal mutant glomeruli (J:67157)
• few endothelial cells were present in the abnormal mutant glomeruli (J:67157)
• absence of cells that express markers of mesangial cell differentiation in the abnormal glomeruli (J:67157)
• absence of cells that express markers of mesangial cell differentiation in the abnormal glomeruli (J:67157)
• at E16.5, kidneys were smaller than controls (J:67157)
• at E16.5, kidneys were smaller than controls (J:67157)

cardiovascular system
• few endothelial cells were present in the abnormal mutant glomeruli (J:67157)
• few endothelial cells were present in the abnormal mutant glomeruli (J:67157)
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule (J:67157)
• reduced myocardial trabeculation evident by E12.5 and thereafter (J:67157)
• reduced myocardial trabeculation evident by E12.5 and thereafter (J:67157)
• in embryos surviving past E11.5, myocardial hypoplasia is evident, with hemorrhaging and edema (J:67157)
• in embryos surviving past E11.5, myocardial hypoplasia is evident, with hemorrhaging and edema (J:67157)
• 40% of embryos exhibited pericardial effusion at E11.5 (J:67157)
• 40% of embryos exhibited pericardial effusion at E11.5 (J:67157)
• 40% of embryos exhibited widespread hemorrhaging at E11.5; also evident in later embryonic stages (J:67157)
• 40% of embryos exhibited widespread hemorrhaging at E11.5; also evident in later embryonic stages (J:67157)

vision/eye
• pronounced asymmetry of the eyes (J:67157)
• pronounced asymmetry of the eyes (J:67157)
• aberrant bulbous structure at the terminus of the hyaloid artery, with many small capillaries emanating from it (J:67157)
• aberrant bulbous structure at the terminus of the hyaloid artery, with many small capillaries emanating from it (J:67157)
• retrolenticular hyperplasia (J:67157)
• retrolenticular hyperplasia (J:67157)
• bilateral (J:67157)
• bilateral (J:67157)

homeostasis/metabolism
• 40% of embryos exhibited pericardial effusion at E11.5 (J:67157)
• 40% of embryos exhibited pericardial effusion at E11.5 (J:67157)
• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface (J:67157)
• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface (J:67157)

growth/size/body
• by E11.5, 40% of embryos showed growth retardation (J:67157)
• by E11.5, 40% of embryos showed growth retardation (J:67157)

liver/biliary system
• bile duct epithelial cell differentiation defects occur (J:74574)
• bile duct epithelial cell differentiation defects occur (J:74574)

muscle
• reduced myocardial trabeculation evident by E12.5 and thereafter (J:67157)
• reduced myocardial trabeculation evident by E12.5 and thereafter (J:67157)

embryogenesis
• by E11.5, 40% of embryos showed growth retardation (J:67157)
• by E11.5, 40% of embryos showed growth retardation (J:67157)

endocrine/exocrine glands
• bile duct epithelial cell differentiation defects occur (J:74574)
• bile duct epithelial cell differentiation defects occur (J:74574)

integument
• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface (J:67157)
• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface (J:67157)

cellular
• at E15.5, an increased number of apoptotic cells was observed in the kidney (J:67157)
• at E15.5, an increased number of apoptotic cells was observed in the kidney (J:67157)
• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice (J:67157)
• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice (J:67157)




Genotype
MGI:3848170
cn2
Allelic
Composition
Jag1tm1.1Loo/Jag1+
Notch2tm1Grid/Notch2+
Tg(Alb1-cre)1Khk/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1.1Loo mutation (0 available); any Jag1 mutation (8 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (15 available)
Tg(Alb1-cre)1Khk mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• no abnormal phenotype was observed including in the bile ducts (J:149131)
• no abnormal phenotype was observed including in the bile ducts (J:149131)




Genotype
MGI:3778810
cx3
Allelic
Composition
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
Genetic
Background
involves: 129S1/Sv
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
liver/biliary system
• at P7, very little bile duct is present (J:133171)
• at P7, very little bile duct is present (J:133171)
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal (J:133171)
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal (J:133171)

endocrine/exocrine glands
• at P7, very little bile duct is present (J:133171)
• at P7, very little bile duct is present (J:133171)
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal (J:133171)
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal (J:133171)




Genotype
MGI:3583235
cx4
Allelic
Composition
Notch2tm1Grid/Notch2+
Dll1tm1Gos/Dll1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll1tm1Gos mutation (2 available); any Dll1 mutation (7 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no kidney defects were observed despite expression of both genes in the developing glomerulus (J:67157)
• no kidney defects were observed despite expression of both genes in the developing glomerulus (J:67157)




Genotype
MGI:2384061
cx5
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




Genotype
MGI:3580251
cx6
Allelic
Composition
Notch1tm1Grid/Notch1tm1Grid
Notch2tm1Grid/Notch2tm1Grid
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch1tm1Grid mutation (0 available); any Notch1 mutation (34 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• reversed and ventral loops (J:83358)
• reversed and ventral loops (J:83358)

embryogenesis
• reversed axial rotation (J:83358)
• reversed axial rotation (J:83358)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory