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Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
Janine M Wotton1, Mark P Krebs2, Riccardo Sangermano3
1Center for Biometric Analysis, The Jackson Laboratory, Bar Harbor, Maine, United States of America.
Plos Genetics
|September 29, 2025
Summary
Large-scale electroretinography (ERG) screening of mouse models identified 28 novel genes linked to retinal function. This research aids in understanding inherited retinal diseases and early functional abnormality detection.
Area of Science:
- Genetics
- Ophthalmology
- Neuroscience
Background:
- Electroretinography (ERG) is a noninvasive method to assess outer retinal cell function.
- The International Mouse Phenotyping Consortium generated numerous single-gene knockout mouse strains.
- Identifying genetic causes of retinal dysfunction is crucial for understanding inherited retinal diseases.
Purpose of the Study:
- To conduct a large-scale ERG-based screen of mouse strains to identify genes affecting retinal function.
- To discover novel genetic variants associated with retinal dysfunction.
- To highlight the utility of ERG screening in identifying early functional abnormalities.
Main Methods:
- Performed ERG screening on 530 single-gene knockout mouse strains.
- Analyzed ERG amplitudes to identify strains with significantly altered retinal function.
- Correlated genetic findings with existing literature and patient data.
Main Results:
- Identified 30 mouse strains with significantly altered ERG amplitudes.
- Validated the screening protocol using known genes (Cfap418, Syne2).
- Newly associated 28 genes with retinal function, with most lacking prior histopathology data.
- Found a relevant FCHSD2 variant in a patient with unexplained retinal degeneration.
Conclusions:
- Large-scale ERG screening is effective in identifying novel genetic determinants of retinal function.
- ERG screening plays a vital role in the early detection of functional retinal abnormalities.
- This study provides a valuable resource for investigating the molecular mechanisms of inherited retinal diseases.
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