All Phenotypes Notch2<tm1Grid> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Notch2^tm1Grid/Notch2^tm1Grid	involves: 129S1/Sv * C57BL/6J	MGI:2384089
cn2	Jag1^tm1.1Loo/Jag1⁺ Notch2^tm1Grid/Notch2⁺ Tg(Alb1-cre)1Khk/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3848170
cx3	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv	MGI:3778810
cx4	Notch2^tm1Grid/Notch2⁺ Dll1^tm1Gos/Dll1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3583235
cx5	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv * C57BL/6J	MGI:2384061
cx6	Notch1^tm1Grid/Notch1^tm1Grid Notch2^tm1Grid/Notch2^tm1Grid	involves: 129S1/Sv * C57BL/6J	MGI:3580251

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:67157 )

• incomplete penetrance; many animals die within the first 24 hours after birth

prenatal lethality, incomplete penetrance ( J:67157 )

• incomplete penetrance; many embryos die between E12.5-E15.5 and become necrotic

• at stages after E16.5, only 12% of the embryos are homozygous mutants

renal/urinary system

kidney microaneurysm ( J:67157 )

• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule

increased kidney apoptosis ( J:67157 )

• at E15.5, an increased number of apoptotic cells was observed in the kidney

decreased kidney cell proliferation ( J:67157 )

• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice

abnormal kidney cortex morphology ( J:67157 )

• vascular lesions evident at the cortical surface

abnormal podocyte morphology ( 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

abnormal renal glomerulus morphology ( J:67157 )

• at E16.5, no morphologically normal glomeruli present

• frequently, the glomerulus appears as a disorganized clump of cells

• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule

abnormal glomerular capillary endothelium morphology ( J:67157 )

• few endothelial cells were present in the abnormal mutant glomeruli

absent mesangial cell ( J:67157 )

• absence of cells that express markers of mesangial cell differentiation in the abnormal glomeruli

small kidney ( J:67157 )

• at E16.5, kidneys were smaller than controls

renal hypoplasia ( J:67157 )

abnormal ureteric bud morphology ( J:67157 )

impaired branching involved in ureteric bud morphogenesis ( J:67157 )

cardiovascular system

abnormal glomerular capillary endothelium morphology ( J:67157 )

• few endothelial cells were present in the abnormal mutant glomeruli

abnormal hyaloid artery morphology ( J:67157 )

• aberrant bulbous structure at the terminus of the hyaloid artery, with many small capillaries emanating from it

kidney microaneurysm ( J:67157 )

• the glomerular capillary tuft sometimes appears as a capillary aneurysm-like structure that releases red blood cells into the Bowman's capsule

abnormal myocardial trabeculae morphology ( J:67157 )

• reduced myocardial trabeculation evident by E12.5 and thereafter

heart hypoplasia ( J:67157 )

• in embryos surviving past E11.5, myocardial hypoplasia is evident, with hemorrhaging and edema

pericardial effusion ( J:67157 )

• 40% of embryos exhibited pericardial effusion at E11.5

hemorrhage ( J:67157 )

• 40% of embryos exhibited widespread hemorrhaging at E11.5; also evident in later embryonic stages

vision/eye

abnormal eye morphology ( J:67157 )

• pronounced asymmetry of the eyes

abnormal hyaloid artery morphology ( J:67157 )

• aberrant bulbous structure at the terminus of the hyaloid artery, with many small capillaries emanating from it

persistent hyperplastic primary vitreous ( J:67157 )

• retrolenticular hyperplasia

microphthalmia ( J:67157 )

• bilateral

homeostasis/metabolism

pericardial effusion ( J:67157 )

• 40% of embryos exhibited pericardial effusion at E11.5

skin edema ( J:67157 )

• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface

growth/size/body

embryonic growth retardation ( J:67157 )

• by E11.5, 40% of embryos showed growth retardation

liver/biliary system

abnormal bile duct development ( J:74574 )

• bile duct epithelial cell differentiation defects occur

muscle

abnormal myocardial trabeculae morphology ( J:67157 )

• reduced myocardial trabeculation evident by E12.5 and thereafter

embryo

embryonic growth retardation ( J:67157 )

• by E11.5, 40% of embryos showed growth retardation

endocrine/exocrine glands

abnormal bile duct development ( J:74574 )

• bile duct epithelial cell differentiation defects occur

integument

skin edema ( J:67157 )

• 50% of embryos at E13.5 showed edema and hemorrhaging vessels near skin surface

cellular

absent mesangial cell ( J:67157 )

• absence of cells that express markers of mesangial cell differentiation in the abnormal glomeruli

increased kidney apoptosis ( J:67157 )

• at E15.5, an increased number of apoptotic cells was observed in the kidney

decreased kidney cell proliferation ( J:67157 )

• at E15.5, no proliferating cells were observed inside the abnormal glomeruli whereas these cells were detected in control mice

Allelic Composition	Jag1^tm1.1Loo/Jag1⁺ Notch2^tm1Grid/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:
Jag1^tm1.1Loo mutation (0 available); any Jag1 mutation (76 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)
Tg(Alb1-cre)1Khk mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:149131 )

• no abnormal phenotype was observed including in the bile ducts

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (76 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

abnormal bile duct morphology ( J:133171 )

• at P7, very little bile duct is present

abnormal bile duct development ( J:133171 )

• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal

endocrine/exocrine glands

abnormal bile duct morphology ( J:133171 )

• at P7, very little bile duct is present

abnormal bile duct development ( J:133171 )

• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal

Allelic Composition	Notch2^tm1Grid/Notch2⁺ Dll1^tm1Gos/Dll1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll1^tm1Gos mutation (2 available); any Dll1 mutation (46 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:67157 )

N	• no kidney defects were observed despite expression of both genes in the developing glomerulus

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:74574 )

• approximately 50% of the double heterozygotes died within the first week after birth

renal/urinary system

abnormal glomerular capillary morphology ( J:67157 )

• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2^tm1Grid/Notch2^tm1Grid homozygous mutant kidneys

kidney microaneurysm ( J:74574 )

• about a quarter of the glomeruli present exhibited capillary aneuryisms

decreased renal glomerulus number ( J:74574 )

• greatly reduced

small kidney ( J:67157 )

• kidneys of the double heterozygotes were about half the size of kidneys from the controls

liver/biliary system

abnormal bile duct development ( J:74574 )

• defects in intrahepatic bile duct differentiation

• few morphologically identifiable bile ducts were present

• 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

• 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

abnormal liver morphology ( J:74574 )

• abnormal proliferation of cells adjacent to the portal veins and bile pigment accumulation in the hepatic parenchyma

cholestasis ( J:74574 )

• chronic; indicated by elevated levels of alanine aminotransferase and alkaline phosphatase

jaundice ( J:74574 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:74574 )

• elevated blood urea nitrogen levels

increased circulating alanine transaminase level ( J:74574 )

• elevated levels of alanine aminotransferase, indicative of liver and biliary dysfunction

increased circulating alkaline phosphatase level ( J:74574 )

• elevated levels of alkaline phosphatase, indicative of liver and biliary dysfunction

cardiovascular system

pulmonary artery stenosis ( J:74574 )

• narrowing of the pulmonary artery; incomplete penetrance; observed in 6 of 9 animals

abnormal glomerular capillary morphology ( J:67157 )

• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2^tm1Grid/Notch2^tm1Grid homozygous mutant kidneys

kidney microaneurysm ( J:74574 )

• about a quarter of the glomeruli present exhibited capillary aneuryisms

overriding aortic valve ( J:74574 )

• dextropositioning (overriding) of the aorta

atrial septal defect ( J:74574 )

• incomplete penetrance; observed in 12 of 14 animals

ventricular septal defect ( J:74574 )

• incomplete penetrance; observed in 6 of 14 animals

ventricular hypoplasia ( J:74574 )

• right ventricular hypoplasia

growth/size/body

postnatal growth retardation ( J:74574 )

vision/eye

abnormal anterior eye segment morphology ( J:74574 )

• eye defects similar to those in Jag1^tm1Grid homozygous mice

endocrine/exocrine glands

abnormal bile duct development ( J:74574 )

• defects in intrahepatic bile duct differentiation

• few morphologically identifiable bile ducts were present

• 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

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:74574

Allelic Composition	Notch1^tm1Grid/Notch1^tm1Grid Notch2^tm1Grid/Notch2^tm1Grid
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch1^tm1Grid mutation (0 available); any Notch1 mutation (115 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

abnormal direction of heart looping ( J:83358 )

• reversed and ventral loops

embryo

abnormal left-right axis patterning ( J:83358 )

• reversed axial rotation

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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