|
Allele Symbol Allele Name Allele ID |
Notch3tm1Grid targeted mutation 1, Tom Gridley MGI:2687010 |
||||||||||||||||||||||||||||
| Summary |
6 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• enlarged arteries with a less festooned elastica lamina in adult mice
• disorganized tunica media in adult mice
• discontinuous layers of noncohesive smooth muscle cells in the caudal artery of adult mice
• normal endothelial cells
• arterial defects are observed in all the organs
• major elastic arteries of the trunk are normal
|
|
• thin, irregular, and overlapping cytoplasmic processes
• form abnormal clusters of poorly oriented cells
• irregular shape of vascular smooth muscle
• thin cytoplasmic expansions
• marked reduction of dense plaques and dense bodies
• no defects in cell proliferation and cell death
• normal arterial identity of endothelial cells
|
|
• vascular smooth muscle cells coat is thinner
• frequently overlapped, thin elongated cytoplasmic processes
|
|
• Angiotensin II infusion induces normal blood pressure response
• Angiotensin II infusion induces strongly defective cerebral blood flow (CBF)
• normal systolic, diastolic, and mean arterial pressure (MABP)
• in spite of arterial defects, no tissue damage is seen
|
|
• Angiotensin II infusion induces strongly defective cerebrovascular resistance (CVR) responses
|
|
• vascular smooth muscle cells coat is thinner
• frequently overlapped, thin elongated cytoplasmic processes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mild increase in vessel density in retinas at P5
• reduction in vessel outgrowth at P5 in retinas
• retinal capillaries exhibit gaps in pericyte coverage
|
|
• mice exhibit impaired arteriolar vascular smooth muscle cell differentiation at P5
|
|
• mild increase in vessel density in retinas at P5
• reduction in vessel outgrowth at P5 in retinas
• retinal capillaries exhibit gaps in pericyte coverage
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | CADASIL 1 | DOID:0111035 |
OMIM:125310 |
J:227333 |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• at P8, mice maintain a hyper-vascularized retinal primary plexus
|
|
• mice exhibit impaired arteriolar vascular smooth muscle cell differentiation at P5
|
|
• enlargement of venules in P5 retinas
|
|
• mice display severe retinal arteriovenous malformations
|
|
• 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
|
|
• mice exhibit impaired arteriolar vascular smooth muscle cell differentiation at P5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CADASIL 1 | DOID:0111035 |
OMIM:125310 |
J:227333 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• fetuses observed at E9.5 exhibited defects characteristic of Notch1tm1Grid homozygotes
• synergistic effects were not observed
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools