Identification of coexisting Mfrprd6 and Pde6brd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice
A subset of rd6 mice exhibited severe retinal detachment and outer retinal degeneration, distinct from the previously characterized Mfrp-related phenotype. The identification of the Pde6brd10 mutation suggests that these mice possess a dual-mutant genotype (Mfrprd6 and Pde6brd10), exacerbating retinal degeneration. These findings highlight the importance of genetic verification in commercially available mouse models and provide new insights into the genetic complexity of inherited retinal degenerations.
Authors
- Mashito Sakai (ORCID: https://orcid.org/0000-0002-4908-2727)
- Yoshitaka Miyagawa (ORCID: https://orcid.org/0000-0003-2629-7503)
- Tsutomu Igarashi (ORCID: https://orcid.org/0000-0002-7467-6746)
- Asaka Lee Shiozawa
- Takashi Okada (ORCID: https://orcid.org/0000-0002-2910-3797)
- Maika Kobayashi
- Yasuhiro Ikeda (ORCID: https://orcid.org/0000-0002-9874-7537)
- Yusuke Shiozawa (ORCID: https://orcid.org/0000-0001-8673-677X)
- Fumiki Okamoto (ORCID: https://orcid.org/0000-0001-6164-7164)
Institutions
- University of Miyazaki (JP)
- Tokyo Medical University (JP)
- Chiba Hokusou Hospital (JP)
- Nippon Medical School (JP)
Publication Details
- Journal
- PLoS ONE
- Published
- 2025-09-23
- DOI
- https://doi.org/10.1371/journal.pone.0332446
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00