Symbol
Name
ID

Prph2
peripherin 2
MGI:102791

Phenotype annotations related to vision/eye

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Abnormal retinal vascular morphology

Attenuation of retinal blood vessels

Abnormality of the eye

Keratoconus

Cataract

Posterior subcapsular cataract

Iris hypopigmentation

Chorioretinal atrophy

Choriocapillaris atrophy

Choroidal neovascularization

Choroideremia

Dark choroid

Abnormal optic disc morphology

Optic atrophy

Optic disc pallor

Absent foveal reflex

Cystoid macular degeneration

Macular atrophy

Macular dystrophy

Vitelliform-like macular lesions

Abnormality of retinal pigmentation

Pigmentary retinopathy

Bone spicule pigmentation of the retina

Retinal degeneration

Retinal nonattachment

Fundus albipunctatus

Pattern dystrophy of the retina

Reticular retinal dystrophy

Rod-cone dystrophy

Subretinal fluid

Yellow/white lesions of the retina

Drusen

Retinal flecks

Decreased Arden ratio of electrooculogram

Abnormal electroretinogram

Nystagmus

Ophthalmoplegia

Abnormality of vision

Color vision defect

Metamorphopsia

Nyctalopia

Adult-onset night blindness

Progressive night blindness

Photophobia

Photopsia

Visual impairment

Reduced visual acuity

Blindness

Moderately reduced visual acuity

Severely reduced visual acuity

Visual field defect

Constriction of peripheral visual field

Peripheral visual field loss

Central scotoma

Glaucoma

Disease(s) Associated with PRPH2

choroidal sclerosis

fundus albipunctatus

Leber congenital amaurosis

patterned macular dystrophy 1

retinitis pigmentosa

retinitis pigmentosa 7

vitelliform macular dystrophy

Mouse Phenotypes

abnormal retina vasculature morphology

retina neovascularization

increased retina apoptosis

eye inflammation

abnormal Muller cell morphology

absent retina cone cells

decreased retina rod cell number

absent retina rod cells

increased retina cone cell number

abnormal retina photoreceptor morphology

abnormal photoreceptor inner segment morphology

abnormal retina cone cell inner segment morphology

disorganized photoreceptor inner segment

short photoreceptor inner segment

abnormal photoreceptor outer segment morphology

abnormal photoreceptor outer segment disc membrane morphology

absent photoreceptor outer segment

short photoreceptor outer segment

abnormal retina cone cell outer segment morphology

abnormal retina rod cell outer segment morphology

disorganized photoreceptor outer segment

abnormal retina cone cell morphology

retina photoreceptor degeneration

abnormal retina pigment epithelium morphology

abnormal eye development

abnormal retina development

abnormal ocular fundus morphology

abnormal retina morphology

abnormal retina layer morphology

abnormal retina neuronal layer morphology

thick retina inner nuclear layer

abnormal retina outer nuclear layer morphology

thin retina outer nuclear layer

disorganized retina outer nuclear layer

retina outer nuclear layer degeneration

abnormal retina outer plexiform layer morphology

thin retina outer plexiform layer

abnormal retina photoreceptor layer morphology

increased susceptibility to age-related retinal degeneration

decreased total retina thickness

retina degeneration

retina gliosis

retina spots

abnormal electroretinogram waveform feature

decreased a-wave amplitude

decreased b-wave amplitude

abnormal eye electrophysiology

abnormal cone electrophysiology

abnormal rod electrophysiology

decreased visual acuity

Availability

Mouse Genotype

Prph2^em1Sal/Prph2^em1Sal

Prph2^Nmf193/Prph2^Nmf193

Prph2^Rd2/Prph2^Rd2

Prph2^tm1.1Itl/Prph2^tm1.1Itl

Prph2^tm1Nmc/Prph2^tm1Nmc

Prph2^tm4.1Itl/Prph2^tm4.1Itl

Prph2^em1Sal/Prph2⁺

Prph2^Nmf193/Prph2⁺

Prph2^Rd2/Prph2⁺

Prph2^tm1.1Itl/Prph2⁺

Prph2^tm1Nmc/Prph2⁺

Prph2^tm4.1Itl/Prph2⁺

Prph2^Nmf193/?

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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