|
Symbol Name ID |
Cfap418
cilia and flagella associated protein 418 MGI:1914407 |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Cataract |
Optic disc pallor |
Hypoplasia of the fovea |
Beaten bronze macular sheen |
Macular atrophy |
Bone spicule pigmentation of the retina |
Retinal atrophy |
Cone/cone-rod dystrophy |
Rod-cone dystrophy |
Retinal thinning |
Hyperautofluorescent macular lesion |
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave |
Myopia |
Nyctalopia |
Photophobia |
Reduced visual acuity |
Blindness |
Constriction of peripheral visual field |
Progressive visual loss |
| Disease(s) Associated with CFAP418 | ||||||||||||||||||||
| Bardet-Biedl syndrome 21 | ||||||||||||||||||||
| cone-rod dystrophy 16 |
| Mouse Phenotypes | decreased retina photoreceptor cell number |
abnormal retina photoreceptor morphology |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
thin retina outer nuclear layer |
decreased total retina thickness |
retina degeneration |
abnormal electroretinogram waveform feature |
increased a-wave implicit time |
increased b-wave implicit time |
decreased a-wave amplitude |
decreased b-wave amplitude |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | ||||||||||||||
| Cfap418em1Jyang/Cfap418em1Jyang | |||||||||||||||
| Cfap418em2Jyang/Cfap418em2Jyang | |||||||||||||||
| Cfap418em3Jyang/Cfap418em3Jyang | |||||||||||||||
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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