|
Symbol Name ID |
Notch2
notch 2 MGI:97364 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Renal tubular acidosis |
Hematuria |
Proteinuria |
Renal artery stenosis |
Hypospadias |
Vesicoureteral reflux |
Focal segmental glomerulosclerosis |
Duplicated collecting system |
Multiple small medullary renal cysts |
Renal cyst |
Polycystic kidney dysplasia |
Renal dysplasia |
Renal hypoplasia/aplasia |
Renal hypoplasia |
Nephrotic syndrome |
Renal insufficiency |
Stage 5 chronic kidney disease |
Abnormality of the ureter |
| Disease(s) Associated with NOTCH2 | ||||||||||||||||||
| Alagille syndrome | ||||||||||||||||||
| Hajdu-Cheney syndrome |
| Mouse Phenotypes | renal/urinary system phenotype |
abnormal glomerular capillary endothelium morphology |
abnormal kidney vasculature morphology |
kidney microaneurysm |
kidney hemorrhage |
absent mesangial cell |
increased kidney apoptosis |
decreased kidney cell proliferation |
renal glomerulus cyst |
abnormal kidney collecting duct morphology |
abnormal kidney cortex morphology |
abnormal podocyte morphology |
absent podocytes |
abnormal renal glomerulus morphology |
abnormal kidney development |
absent metanephric mesenchyme |
abnormal metanephric ureteric bud development |
abnormal nephrogenic zone morphology |
abnormal kidney papilla morphology |
abnormal kidney pelvis morphology |
small kidney |
renal hypoplasia |
abnormal renal tubule morphology |
abnormal proximal convoluted tubule morphology |
dilated proximal convoluted tubule |
dilated renal tubule |
abnormal urinary bladder morphology |
abnormal ureteric bud morphology |
impaired branching involved in ureteric bud morphogenesis |
kidney failure |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||
| Notch2tm1Grid/Notch2tm1Grid | |||||||||||||||||||||||||||||||
| Notch2tm1.1Hhtg/Notch2+ | * | ||||||||||||||||||||||||||||||
| Notch2tm3Grid/Notch2tm3Grid Tg(Pax3-cre)1Joe/0 (conditional) |
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| Gt(ROSA)26Sortm2(Notch2)Ryn/Gt(ROSA)26Sor+ Six2tm1(tTA,tetO-EGFP/cre)Amc/Six2+ (conditional) |
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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 04/30/2024 MGI 6.23 |
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