Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.

ABSTRACT: Electroretinography (ERG) provides a noninvasive functional measure of multiple cell types of the outer retina. We conducted an ERG-based screen of 530 single-gene knockout mouse strains generated as part of the International Mouse Phenotyping Consortium, representing 2.5% of all protein-coding genes, to identify genetic variants affecting retinal function. We identified 30 strains with significantly altered ERG amplitudes. Two of the genes identified, Cfap418 and Syne2, have been previously reported with outer retinal dysfunction, thereby serving as internal controls that validate our screening protocol. Of the remaining 28 genes newly associated with altered retinal function, the majority lacked a contemporaneous histopathology correlate, highlighting the importance of ERG in early detec

SUBMITTER: Wotton JM 

PROVIDER: S-EPMC12503315 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature