|
Symbol Name ID |
Cep290
centrosomal protein 290 MGI:2384917 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cataract |
Abnormality of retinal pigmentation |
Retinal coloboma |
Retinal degeneration |
Retinal dystrophy |
Rod-cone dystrophy |
Microphthalmia |
Undetectable electroretinogram |
Nystagmus |
Rotary nystagmus |
Oculomotor apraxia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
Congenital blindness |
Severely reduced visual acuity |
Visual loss |
Progressive visual loss |
Ptosis |
| Disease(s) Associated with CEP290 | |||||||||||||||||||
| Bardet-Biedl syndrome 14 | |||||||||||||||||||
| Joubert syndrome 5 | |||||||||||||||||||
| Leber congenital amaurosis 10 | |||||||||||||||||||
| Meckel syndrome 4 | |||||||||||||||||||
| Senior-Loken syndrome |
| Mouse Phenotypes | abnormal retina photoreceptor morphology |
photoreceptor inner segment degeneration |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
photoreceptor outer segment degeneration |
retina cone cell degeneration |
retina rod cell degeneration |
retina photoreceptor degeneration |
abnormal retina pigment epithelium morphology |
thin retina outer nuclear layer |
retina outer nuclear layer degeneration |
increased susceptibility to age-related retinal degeneration |
retina degeneration |
retina spots |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
|
| Availability | Mouse Genotype | ||||||||||||||||
| Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi | |||||||||||||||||
| Cep290rd16/Cep290rd16 | |||||||||||||||||
| Cep290tm1.1Jgg/Cep290tm1.1Jgg | |||||||||||||||||
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 04/23/2024 MGI 6.23 |
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