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Symbol
Name
ID 		Prom1
prominin 1
MGI:1100886
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Attenuation of retinal blood vessels
Optic disc pallor
Bull's eye maculopathy
Granular macular appearance
Macular degeneration
Macular dystrophy
Pigmentary retinopathy
Spicular pigmentation of the retina
Retinal pigment epithelial atrophy
Cone/cone-rod dystrophy
Rod-cone dystrophy
Perifoveal ring of hyperautofluorescence
Abnormal light- and dark-adapted electroretinogram
Undetectable electroretinogram
Nystagmus
Color vision defect
Dyschromatopsia
Nyctalopia
Reduced visual acuity
Severely reduced visual acuity
Peripheral visual field loss
Central scotoma
Disease(s) Associated with PROM1
cone-rod dystrophy 12
retinal macular dystrophy 2
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
absent a-wave
absent b-wave
abnormal cone electrophysiology
abnormal rod electrophysiology
Availability Mouse Genotype
Prom1rd19/Prom1rd19
Prom1tm1Pec/Prom1tm1Pec
Contributing Projects:
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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Send questions and comments to User Support. 		last database update
05/19/2026
MGI 6.24 		The Jackson Laboratory