A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.

ABSTRACT: During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss. The mice exhibited an early-onset phenotype that was easily recognized by the absence of a cone-mediated b-wave electroretinography response and by a reduction in rod-mediated photoresponses at four weeks of age. By genetic mapping and high-throughput sequencing of a whole exome capture library of cpfl9, a homozygous 25 bp deletion within exon 11 of the Gucy2e gene was identified, which is predicted to result in a frame shift leading to premature termination. The corresponding protein in human, retinal guanylate cyclase 1 (GUCY2D), pl

SUBMITTER: Naggert ASEN 

PROVIDER: S-EPMC9868315 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature