Symbol Name ID |
Rpe65
retinal pigment epithelium 65 MGI:98001 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Cataract |
Posterior subcapsular cataract |
Chorioretinal atrophy |
Optic atrophy |
Optic disc pallor |
Absent foveal reflex |
Abnormality of retinal pigmentation |
Pigmentary retinopathy |
Bone spicule pigmentation of the retina |
Nummular pigmentation of the fundus |
Retinal degeneration |
Rod-cone dystrophy |
Fundus atrophy |
Abnormal electroretinogram |
Undetectable light- and dark-adapted electroretinogram |
Nystagmus |
Ophthalmoplegia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Severely reduced visual acuity |
Peripheral visual field loss |
Glaucoma |
Disease(s) Associated with RPE65 | ||||||||||||||||||||||||||||||
Leber congenital amaurosis 2 | ||||||||||||||||||||||||||||||
retinitis pigmentosa | ||||||||||||||||||||||||||||||
retinitis pigmentosa 20 | ||||||||||||||||||||||||||||||
retinitis pigmentosa 87 |
Mouse Phenotypes | short photoreceptor inner segment |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
abnormal retina rod cell outer segment morphology |
disorganized photoreceptor outer segment |
photoreceptor outer segment degeneration |
retina cone cell degeneration |
retina rod cell degeneration |
retina photoreceptor degeneration |
abnormal retina pigment epithelium morphology |
abnormal retina pigmentation |
abnormal pupil morphology |
abnormal retina morphology |
thin retina outer nuclear layer |
retina outer nuclear layer degeneration |
increased susceptibility to age-related retinal degeneration |
retina degeneration |
retina spots |
abnormal eye physiology |
decreased b-wave implicit time |
decreased a-wave amplitude |
abnormal eye electrophysiology |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
delayed dark adaptation |
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Availability | Mouse Genotype | |||||||||||||||||||||||||
Rpe65450L/Rpe65450L | ||||||||||||||||||||||||||
Rpe65450M/Rpe65450M | ||||||||||||||||||||||||||
Rpe65rd12-2J/Rpe65rd12-2J | ||||||||||||||||||||||||||
Rpe65rd12/Rpe65rd12 | ||||||||||||||||||||||||||
Rpe65tm1a(EUCOMM)Hmgu/Rpe65tm1a(EUCOMM)Hmgu | ||||||||||||||||||||||||||
Rpe65tm1Lrcb/Rpe65tm1Lrcb | ||||||||||||||||||||||||||
Rpe65tm1Tmr/Rpe65tm1Tmr | ! | |||||||||||||||||||||||||
Rpe65tvrm148/Rpe65tvrm148 |
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 08/02/2024 MGI 6.24 |
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