Symbol
Name
ID

Cfap418
cilia and flagella associated protein 418
MGI:1914407

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Attenuation of retinal blood vessels

Cataract

Optic disc pallor

Hypoplasia of the fovea

Beaten bronze macular sheen

Macular atrophy

Spicular pigmentation of the retina

Retinal atrophy

Cone/cone-rod dystrophy

Rod-cone dystrophy

Hyperautofluorescent macular lesion

Retinal thinning on OCT

Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

Myopia

Nyctalopia

Photophobia

Reduced visual acuity

Blindness

Constriction of peripheral visual field

Progressive visual loss

Disease(s) Associated with CFAP418

Bardet-Biedl syndrome 21

cone-rod dystrophy 16

Mouse Phenotypes

decreased retina photoreceptor cell number

abnormal retina photoreceptor morphology

abnormal photoreceptor outer segment morphology

short photoreceptor outer segment

thin retina outer nuclear layer

decreased total retina thickness

retina degeneration

abnormal electroretinogram waveform feature

increased a-wave implicit time

increased b-wave implicit time

decreased a-wave amplitude

decreased b-wave amplitude

abnormal cone electrophysiology

abnormal rod electrophysiology

Availability

Mouse Genotype

Cfap418^em1Jyang/Cfap418^em1Jyang

Cfap418^em2Jyang/Cfap418^em2Jyang

Cfap418^em3Jyang/Cfap418^em3Jyang

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 07/14/2026 MGI 6.24