|
Symbol Name ID |
Cerkl
ceramide kinase-like MGI:3037816 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Posterior subcapsular cataract |
Optic atrophy |
Optic disc pallor |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Rod-cone dystrophy |
Abnormal electroretinogram |
Undetectable light- and dark-adapted electroretinogram |
Nystagmus |
Ophthalmoplegia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Blindness |
Constriction of peripheral visual field |
Peripheral visual field loss |
Glaucoma |
| Disease(s) Associated with CERKL | |||||||||||||||||||||||
| retinitis pigmentosa | |||||||||||||||||||||||
| retinitis pigmentosa 26 |
| Mouse Phenotypes | vision/eye phenotype |
increased retina apoptosis |
decreased retina photoreceptor cell number |
abnormal retina ganglion cell morphology |
abnormal photoreceptor outer segment disc membrane morphology |
long photoreceptor outer segment |
abnormal retina rod cell outer segment morphology |
disorganized photoreceptor outer segment |
abnormal retina cone cell morphology |
retina cone cell degeneration |
abnormal retina pigment epithelium morphology |
cataract |
abnormal retina outer nuclear layer morphology |
thin retina outer nuclear layer |
disorganized retina layers |
increased susceptibility to age-related retinal degeneration |
abnormal total retina thickness |
retina gliosis |
abnormal electroretinogram waveform feature |
decreased b-wave amplitude |
abnormal eye electrophysiology |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
abnormal vision |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Cerkltm1.1Geno/Cerkltm1.1Geno | |||||||||||||||||||||||||
| Cerkltm1.1Npa/Cerkltm1.1Npa | * | ||||||||||||||||||||||||
| Cerklem1Gmar/Cerkltm1.1Geno | |||||||||||||||||||||||||
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 04/16/2024 MGI 6.23 |
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