|
Symbol Name ID |
Cc2d2a
coiled-coil and C2 domain containing 2A MGI:1924487 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Astigmatism |
Cataract |
Posterior subcapsular cataract |
Optic atrophy |
Optic disc pallor |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Retinal dystrophy |
Abnormal electroretinogram |
Nystagmus |
Oculomotor apraxia |
Ophthalmoplegia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Cerebral visual impairment |
Blindness |
Peripheral visual field loss |
Glaucoma |
| Disease(s) Associated with CC2D2A | |||||||||||||||||||||||||
| Joubert syndrome 9 | |||||||||||||||||||||||||
| retinitis pigmentosa |
| Mouse Phenotypes | abnormal photoreceptor inner segment morphology |
abnormal photoreceptor outer segment morphology |
microphthalmia |
abnormal retina morphology |
abnormal retina outer nuclear layer morphology |
anophthalmia |
abnormal eye electrophysiology |
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| Availability | Mouse Genotype | |||||||
| Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo | ||||||||
| Cc2d2aGt(AA0274)Wtsi/Cc2d2aGt(AA0274)Wtsi | ||||||||
| Cc2d2atm1Asw/Cc2d2atm1Asw | ||||||||
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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