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Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
Pei-Hsuan Lin1,2, Eugene Yu-Chuan Kang1,3,4,5, Neoklis Makrides1
1Department of Ophthalmology, Edward S. Harkness Eye Institute, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, Columbia University, New York, New York, United States.
Investigative Ophthalmology & Visual Science
|September 9, 2025
Summary
A new mouse model for congenital stationary night blindness (CSNB) was created. Gene therapy partially restored visual function, highlighting the importance of early treatment for this Grm6-related retinal disorder.
Area of Science:
- Neuroscience
- Genetics
- Ophthalmology
Background:
- Congenital Stationary Night Blindness (CSNB) is a group of inherited retinal diseases.
- These disorders disrupt visual signaling, often impacting photoreceptor-to-bipolar cell communication.
- The Grm6 gene plays a crucial role in this signaling pathway.
Purpose of the Study:
- To characterize a novel no b-wave (nob) mouse model for CSNB.
- To identify the genetic cause of the nob phenotype.
- To evaluate gene therapy's efficacy in restoring visual function in this model.
Main Methods:
- Generated the nob mouse model through selective breeding.
- Administered adeno-associated virus vectors with Grm6 and GFP using hGRM6 or CMV promoters.
- Performed electroretinography and spectral domain optical coherence tomography (SD-OCT) post-treatment.
Main Results:
- Identified a Grm6 missense variant (c.1037G>A) as the cause of the nob phenotype.
- Confirmed absence of scotopic b-waves, indicating impaired bipolar cell function.
- Gene therapy partially restored mGluR6 expression and synaptic protein localization, with modest functional recovery.
Conclusions:
- Established a valuable mouse model for CSNB research.
- Gene therapy showed promise but had limited functional restoration.
- Early intervention and optimized promoter choice are crucial for effective gene therapy in CSNB.
