Symbol
Name
ID

Cln8
CLN8 transmembrane ER and ERGIC protein
MGI:1349447

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes	Optic disc pallor	Undetectable electroretinogram	Abnormality of pattern visual evoked potentials	Visual impairment	Progressive visual loss
Disease(s) Associated with CLN8	Optic disc pallor	Undetectable electroretinogram	Abnormality of pattern visual evoked potentials	Visual impairment	Progressive visual loss
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Mouse Phenotypes

abnormal retina rod cell inner segment morphology

short photoreceptor inner segment

short photoreceptor outer segment

abnormal retina rod cell outer segment morphology

abnormal retina pigment epithelium morphology

cataract

abnormal retina morphology

thin retina outer nuclear layer

abnormal retina photoreceptor layer morphology

increased susceptibility to age-related retinal degeneration

abnormal vitreous body morphology

blindness

Availability

Mouse Genotype

Cln8^em1(IMPC)Mbp/Cln8^em1(IMPC)Mbp

Cln8^mnd/Cln8^mnd

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 04/16/2024 MGI 6.23