Identification of coexisting Mfrprd6 and Pde6brd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice.

ABSTRACT:

Purpose

The rd6 mouse model, characterized by retinal degeneration due to an Mfrp mutation, has been widely studied. However, we identified a subset of rd6 mice that developed severe non-rhegmatogenous retinal detachment (rd6-RD), suggesting the presence of additional genetic factors. This study aimed to characterize the retinal phenotype of rd6-RD mice and identify potential causative genetic mutations.

Methods

We performed optical coherence tomography, fundus imaging, electroretinography, and histological analysis to compare retinal structures and functions between rd6, rd6-RD, and C57BL/6J mice. Whole-genome sequencing was conducted to identify potential mutations associated with the retinal detachment phenotype.

Results

Optical coherence tomography revealed retina

SUBMITTER: Shiozawa AL 

PROVIDER: S-EPMC12456819 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature