Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.
9 affiliations
- 1Ramon Castroviejo Institute for Ophthalmic Research, Complutense University of Madrid, Madrid, Spain.
- 2Health Research Institute of the Hospital Clínico San Carlos, Madrid, Spain.
- 3Department of Immunology, Ophthalmology and ENT, Faculty of Optics and Optometry, Complutense University of Madrid, Madrid, Spain.
- 4Department of System Biology. University of Alcalá, Madrid, Spain.
- 5Visual Neurophysiology Group-IRYCIS, Madrid, Spain.
- 6Institute for Bioengineering of Catalonia (IBEC), Barcelona; Spain.
- 7Department of Physiology, School of Medicine, Complutense University of Madrid, Madrid, Spain.
- 8National Centre for Biotechnology (CNB) - Spanish National Research Council (CSIC), Madrid, Spain.
- 9Rare Diseases Networking Biomedical Research Centre (CIBERER-ISCIII), Madrid, Spain.
Abstract
Purpose
To characterize the functional, structural, vascular, genetic, and histologic correlates of spontaneous retinal electrophysiological phenotypes in male CD-1 mice to ensure accurate phenotyping in vision research.Methods
Baseline full-field flash ERG (ffERG) was recorded in 205 male CD-1 mice. Subsets were evaluated using visual evoked potentials (VEP; n = 12), optical coherence tomography/optical coherence tomography angiography (OCT/OCTA) (n = 17), Gnat2 genotyping (n = 8), and quantitative immunohistochemistry (n = 5-6/phenotype) for cone arrestin, rhodopsin, PKCα (bipolar cells), Brn3a (ganglion cells), Iba1 (microglia), and GFAP (macroglia).Results
FfERG identified three phenotypes: normal (n = 74), cone dysfunction (n = 126), and severe retinal dysfunction (n = 5). FfERG and VEP showed absent cone responses in cone dysfunction mice and complete response abolition in the severe group. OCT/OCTA revealed outer retinal thinning and deep capillary plexus remodeling in severe dysfunction, whereas the cone dysfunction mice retained overall structure. Genotyping confirmed Gnat2 mutations in affected groups. Histology confirmed isolated cone loss in cone dysfunction and combined rod-cone loss in severe dysfunction, both with increased glial activation. Brn3a+ ganglion cells were significantly reduced in both affected groups compared to in normal mice.Conclusions
Spontaneous Gnat2-associated retinal dysfunction is common in CD-1 mice, causing photoreceptor loss, neuroinflammation, and ganglion cell reduction. Baseline electrophysiological screening is crucial when using this strain for vision research.
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BibTeX
@article{matamoros2026spontaneous,
title = {{Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.}},
author = {José A Matamoros and Santiago Milla-Navarro and Elena Salobrar-García and José A Fernández-Albarral and Víctor Paleo-García and Marta Cantero and Inés López-Cuenca and Lorena Elvira-Hurtado and Francisco J Germain and Lluis Montoliu and Rosa de Hoz and Juan José Salazar and Pedro de la Villa and Ana I Ramírez},
journal = {Investigative ophthalmology \& visual science},
year = {2026},
month = oct,
doi = {10.1167/iovs.67.12.20},
url = {https://europepmc.org/article/MED/42853007},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.
AU - José A Matamoros
AU - Santiago Milla-Navarro
AU - Elena Salobrar-García
AU - José A Fernández-Albarral
AU - Víctor Paleo-García
AU - Marta Cantero
AU - Inés López-Cuenca
AU - Lorena Elvira-Hurtado
AU - Francisco J Germain
AU - Lluis Montoliu
AU - Rosa de Hoz
AU - Juan José Salazar
AU - Pedro de la Villa
AU - Ana I Ramírez
PY - 2026
DA - 2026/10/01
JO - Investigative ophthalmology & visual science
DO - 10.1167/iovs.67.12.20
UR - https://europepmc.org/article/MED/42853007
AB - Purpose To characterize the functional, structural, vascular, genetic, and histologic correlates of spontaneous retinal electrophysiological phenotypes in male CD-1 mice to ensure accurate phenotyping in vision research.Methods Baseline full-field flash ERG (ffERG) was recorded in 205 male CD-1 mice. Subsets were evaluated using visual evoked potentials (VEP; n = 12), optical coherence tomography/optical coherence tomography angiography (OCT/OCTA) (n = 17), Gnat2 genotyping (n = 8), and quantitative immunohistochemistry (n = 5-6/phenotype) for cone arrestin, rhodopsin, PKCα (bipolar cells), Brn3a (ganglion cells), Iba1 (microglia), and GFAP (macroglia).Results FfERG identified three phenotypes: normal (n = 74), cone dysfunction (n = 126), and severe retinal dysfunction (n = 5). FfERG and VEP showed absent cone responses in cone dysfunction mice and complete response abolition in the severe group. OCT/OCTA revealed outer retinal thinning and deep capillary plexus remodeling in severe dysfunction, whereas the cone dysfunction mice retained overall structure. Genotyping confirmed Gnat2 mutations in affected groups. Histology confirmed isolated cone loss in cone dysfunction and combined rod-cone loss in severe dysfunction, both with increased glial activation. Brn3a+ ganglion cells were significantly reduced in both affected groups compared to in normal mice.Conclusions Spontaneous Gnat2-associated retinal dysfunction is common in CD-1 mice, causing photoreceptor loss, neuroinflammation, and ganglion cell reduction. Baseline electrophysiological screening is crucial when using this strain for vision research.
SN - 0146-0404
SN - 1552-5783
ER -