Analysis Tools|
Allele Symbol Allele Name Allele ID |
Notch1+ wild type MGI:1857407 |
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| Summary |
21 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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IMPC - HAR
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IMPC - HAR
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IMPC - HAR
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinas show increased vessel branching at P15 and a higher number of filopodia at the vascular front
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• retinas show increased vessel branching at P15 and a higher number of filopodia at the vascular front
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice fed a hypercholesterolemic diet supplemented with vitamin D (HCVD), exhibit normal echocardiography measurements
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• mice fed the HCVD diet exhibit a moderate level of aortic valve leaflet calcification
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• leaflets are thicker in mice fed control chow and diet does not have an effect on leaflet thickness
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• mice exhibit increased aortic valve inflammation when fed the HCVD diet, showing increased macrophage infiltration in the leaflets
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• mice exhibit increased aortic valve inflammation when fed the HCVD diet, showing increased macrophage infiltration in the leaflets
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in vessel density in retinas at P5
• retinal capillaries exhibit gaps in pericyte coverage
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• at P1, neonatal heterozygotes display numerous regions of the cochlear sensory epithelium with 4 rather than 3 rows of OHCs
• significant increases are noted in both the numbers of regions of fourth row OHCs, as well as the total number of fourth row OHCs
• however, patterning of OHC rows is normal, and no supernumerary hair cells are observed in the IHC row
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• increase in vessel density in retinas at P5
• retinal capillaries exhibit gaps in pericyte coverage
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• at P1, neonatal heterozygotes display numerous regions of the cochlear sensory epithelium with 4 rather than 3 rows of OHCs
• significant increases are noted in both the numbers of regions of fourth row OHCs, as well as the total number of fourth row OHCs
• however, patterning of OHC rows is normal, and no supernumerary hair cells are observed in the IHC row
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased rate and severity of vertebrae defects after mild hypoxia, predominantly in the caudal thorax to lumbar region
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 8 weeks, dispersed gray hairs are observed
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• at 8 weeks, dispersed gray hairs are observed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• pigmentation mediated by non-follicular melanocytes such as in the ear or eye is not affected by this mutation
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• when crossed to transgenic mice to visualize melanoblasts and melanocytes (dopachrome tautomerase - LacZ mice), at 9 days of age, a decreased number of melanocytes in the lower permanent portion of the hair follicle is observed; differences are greater at 3 and 4.5 weeks with most follicles lacking melanocytes
• mutant hair bulbs lack pigment after their first regeneration
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• coat is completetly gray with coat slightly lighter in color compared to mice missing both Notch2 alleles and one Notch1 allele
• dilution is progressive and increases with age; there is an increasing number of gray and white hairs with age such that at 7 days coat color is indistinguishable from controls, but at 7 months, coat is completely white
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• when crossed to transgenic mice to visualize melanoblasts and melanocytes (dopachrome tautomerase - LacZ mice), at 9 days of age, a decreased number of melanocytes in the lower permanent portion of the hair follicle is observed; differences are greater at 3 and 4.5 weeks with most follicles lacking melanocytes
• mutant hair bulbs lack pigment after their first regeneration
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• coat is completetly gray with coat slightly lighter in color compared to mice missing both Notch2 alleles and one Notch1 allele
• dilution is progressive and increases with age; there is an increasing number of gray and white hairs with age such that at 7 days coat color is indistinguishable from controls, but at 7 months, coat is completely white
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the number of Map+ cells that differentiate in culture is increased while the number of Nes+ cells is decreased compared to in cultures from wild-type mice
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• the number of Map+ cells that differentiate in culture is increased while the number of Nes+ cells is decreased compared to in cultures from wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• newborns have hypoplastic kidneys without functional nephrons; one copy of the N2ICD expressed from the Notch1 locus cannot rescue nephrons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most double heterozygotes die a few hours after birth; only 10% survive up to 8 days
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• at P4, there is a significant reduction in the number of mitotic cells in the rostral migratory stream of brains from mutants at P4
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• at P4, there is a significant reduction in the number of dividing cells in the subventricular zone of brains from double heterozygotes
• at P8, the subventricular zone is noticeably thinner, with reduced cellularity and a 60% reduction in the number of proliferating cells compared to wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• kidneys have functional nephrons in normal numbers; one copy of the Notch1 intracellular domain (N1ICD) expressed from the Notch2 locus is sufficient for nephron formation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal valve morphology in E16.5 embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal ventricular morphology
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• in E16.5 embryos
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• in E16.5 embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single mutant, with even greater vessel branching and number of filopodia at the vascular front
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• retinas show greater extravascular fibrinogen staining and extravasation of perfused sulfo-NHS-LC-biotin, indicating greater impaired vascular integrity than single Eogt homozygotes
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single mutant, with even greater vessel branching and number of filopodia at the vascular front
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• normal size at birth but weight was only about 80% that of controls at 3 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in the number of endothelial tip cells at the angiogenic front of P5 retinas
• P8 retinas display areas of sheet-like endothelium that lacks defined arterioles and venules
• retinas show extensive presence of arteriovenous shunts and vascular tangles
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• increase in vessel density in retinas compared to either single mutant
• reduction in vessel outgrowth at P5 in retinas
• retinal capillaries exhibit gaps in pericyte coverage
• P5 retinas show altered vessel structures with pericytes located at a greater distance from the vessel lumen, indicative of pericyte dissociation
• the intracellular region between pericytes and endothelial cells appears wider, less dense and has visible large open spaces indicating that pericytes fail to associate properly with the endothelium
• retinal vessels of P5 mice show loss of mural cells
• P5 retinal capillaries exhibit numerous granular osmiophilic material in the vicinity of pericytes and not associated with endothelial cells
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• increase in the number of endothelial tip cells at the angiogenic front of P5 retinas
• P8 retinas display areas of sheet-like endothelium that lacks defined arterioles and venules
• retinas show extensive presence of arteriovenous shunts and vascular tangles
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• increase in vessel density in retinas compared to either single mutant
• reduction in vessel outgrowth at P5 in retinas
• retinal capillaries exhibit gaps in pericyte coverage
• P5 retinas show altered vessel structures with pericytes located at a greater distance from the vessel lumen, indicative of pericyte dissociation
• the intracellular region between pericytes and endothelial cells appears wider, less dense and has visible large open spaces indicating that pericytes fail to associate properly with the endothelium
• retinal vessels of P5 mice show loss of mural cells
• P5 retinal capillaries exhibit numerous granular osmiophilic material in the vicinity of pericytes and not associated with endothelial cells
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• a subset of pericytes in capillaries show altered cell morphology with overlapping cell processes that fail to tightly and continuously line the endothelium
• reduction in pericyte coverage and abnormal pericyte morphology along enlarged retinal venules at P5
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• at P8, mice maintain a hyper-vascularized retinal primary plexus
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• mice exhibit impaired arteriolar vascular smooth muscle cell differentiation at P5
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• enlargement of venules in P5 retinas
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• mice display severe retinal arteriovenous malformations
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• collagen IV deposition in retinal capillaries is severely disorganized and often in the open spaces of the capillary plexus and laminin deposition is abnormal indicating abnormal vascular basement membrane formation
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• mice exhibit impaired arteriolar vascular smooth muscle cell differentiation at P5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CADASIL 1 | DOID:0111035 |
OMIM:125310 |
J:227333 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• these compound mutant mice were born in normal numbers, but showed the same degree of runting as mutant mice homozygous for an Aes null allele
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• smaller IHC surface area
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• number of IHC doublets is increased compared to wild-type controls and mice homozygous for Lrrn1em1Dri and wild-type for Notch1
• increase in the number of aligned IHCs
• however, the length of the cochlea is similar to wild-type controls
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• smaller IHC surface area
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• number of IHC doublets is increased compared to wild-type controls and mice homozygous for Lrrn1em1Dri and wild-type for Notch1
• increase in the number of aligned IHCs
• however, the length of the cochlea is similar to wild-type controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single homozygote, with even greater vessel branching and number of filopodia
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single homozygote, with even greater vessel branching and number of filopodia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single mutant, with even greater vessel branching and number of filopodia
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• retinal vascular defects are enhanced in P5 and P15 mice compared to either single mutant, with even greater vessel branching and number of filopodia
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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 12/30/2025 MGI 6.24 |
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