Symbol
Name
ID

C1qtnf5
C1q and tumor necrosis factor related protein 5
MGI:2385958

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Abnormal anterior eye segment morphology

Abnormal suspensory ligament of lens morphology

Iris transillumination defect

Iris atrophy

Chorioretinal degeneration

Chorioretinal atrophy

Choroidal neovascularization

Peripapillary atrophy

Macular degeneration

Macular atrophy

Epiretinal membrane

Retinal degeneration

Patchy atrophy of the retinal pigment epithelium

Retinopathy

Sub-RPE deposits

Multifocal subretinal deposits

Drusen

Fundus atrophy

Ocular hypertension

Tritanomaly

Red-green dyschromatopsia

Nyctalopia

Adult-onset night blindness

Photophobia

Severely reduced visual acuity

Abnormal best corrected visual acuity test

Scotoma

Visual loss

Disease(s) Associated with C1QTNF5

late-onset retinal degeneration

Mouse Phenotypes

decreased retina cone cell number

abnormal retina photoreceptor morphology

abnormal photoreceptor inner segment morphology

abnormal retina cone cell inner segment morphology

abnormal retina rod cell inner segment morphology

short photoreceptor outer segment

abnormal retina cone cell morphology

retina cone cell degeneration

abnormal retina pigment epithelium morphology

abnormal ocular fundus morphology

abnormal retina morphology

thin retina outer nuclear layer

increased susceptibility to age-related retinal degeneration

decreased total retina thickness

abnormal Bruch membrane morphology

abnormal eye electrophysiology

abnormal cone electrophysiology

abnormal rod electrophysiology

Availability

Mouse Genotype

C1qtnf5^{tm1.1(KOMP)Vlcg}/C1qtnf5^{tm1.1(KOMP)Vlcg}

C1qtnf5^{tm1.1(KOMP)Vlcg}/C1qtnf5⁺

C1qtnf5^tm1.1Itl/C1qtnf5⁺

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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