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Symbol Name ID |
Cep290
centrosomal protein 290 MGI:2384917 |
| Darker colors indicate more annotations |
| Human Phenotypes | Enuresis |
Thickening of the tubular basement membrane |
Tubulointerstitial fibrosis |
Reduced renal corticomedullary differentiation |
Renal cortical cysts |
Renal corticomedullary cysts |
Nephronophthisis |
Renal cyst |
Polyuria |
Renal insufficiency |
Chronic kidney disease |
Stage 5 chronic kidney disease |
Impaired renal concentrating ability |
| Disease(s) Associated with CEP290 | |||||||||||||
| Bardet-Biedl syndrome 14 | |||||||||||||
| Joubert syndrome 5 | |||||||||||||
| Meckel syndrome 4 | |||||||||||||
| Senior-Loken syndrome |
| Mouse Phenotypes | abnormal renal tubule epithelial cell primary cilium morphology |
absent kidney epithelial cell primary cilium |
kidney cyst |
kidney cortex cyst |
polycystic kidney |
renal glomerulus cyst |
abnormal kidney collecting duct morphology |
polyuria |
|
| Availability | Mouse Genotype | ||||||||
| Cep290b2b1454Clo/Cep290b2b1454Clo | |||||||||
| Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi | |||||||||
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 08/21/2024 MGI 6.24 |
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