|
Symbol Name ID |
Prom1
prominin 1 MGI:1100886 |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Optic disc pallor |
Bull's eye maculopathy |
Macular degeneration |
Pigmentary retinopathy |
Bone spicule pigmentation of the retina |
Cone/cone-rod dystrophy |
Rod-cone dystrophy |
Abnormal light- and dark-adapted electroretinogram |
Undetectable electroretinogram |
Nystagmus |
Color vision defect |
Nyctalopia |
Reduced visual acuity |
Severely reduced visual acuity |
Peripheral visual field loss |
Central scotoma |
| Disease(s) Associated with PROM1 | |||||||||||||||||
| cone-rod dystrophy 12 | |||||||||||||||||
| retinitis pigmentosa 41 |
| Mouse Phenotypes | abnormal retina vasculature morphology |
abnormal retina blood vessel morphology |
short retina cone cell outer segment |
abnormal retina cone cell outer segment morphology |
abnormal retina rod cell outer segment morphology |
photoreceptor outer segment degeneration |
abnormal retina cone cell morphology |
abnormal retina rod cell morphology |
retina photoreceptor degeneration |
abnormal eye pigmentation |
abnormal retina pigment epithelium morphology |
abnormal retina pigmentation |
abnormal retina morphology |
retina outer nuclear layer degeneration |
retina degeneration |
abnormal electroretinogram waveform feature |
decreased a-wave amplitude |
decreased b-wave amplitude |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | ||||||||||||||||||||
| Prom1rd19/Prom1rd19 | |||||||||||||||||||||
| Prom1tm1Pec/Prom1tm1Pec | |||||||||||||||||||||
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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