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Symbol
Name
ID

Rpe65
retinal pigment epithelium 65
MGI:98001

Phenotype annotations related to vision/eye

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

Availability

Mouse Genotype

Rpe65^450L/Rpe65^450L

Rpe65^450M/Rpe65^450M

Rpe65^rd12-2J/Rpe65^rd12-2J

Rpe65^rd12/Rpe65^rd12

Rpe65^{tm1a(EUCOMM)Hmgu}/Rpe65^{tm1a(EUCOMM)Hmgu}

Rpe65^tm1Lrcb/Rpe65^tm1Lrcb

Rpe65^tm1Tmr/Rpe65^tm1Tmr

Rpe65^tvrm148/Rpe65^tvrm148

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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