Genetic mutation causing visual impairments identified in lab mice

A study led by UCM, CNB-CSIC, and CIBERER reveals how a mutation in the Gnat2 gene can affect vision and research reliability.

Generic image of a mouse's eye with a subtle glow, representing genetic mutation and visual alteration.
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Generic image of a mouse's eye with a subtle glow, representing genetic mutation and visual alteration.

A research team led by the Complutense University of Madrid, the National Biotechnology Center (CNB-CSIC), and the CIBER of Rare Diseases (CIBERER) has identified a genetic mutation in the Gnat2 gene that causes significant visual alterations in laboratory mice, previously considered healthy.

This finding, published in the journal Investigative Ophthalmology & Visual Science, is crucial for improving the reliability of scientific experiments, ensuring that observed visual alterations are not mistaken for effects of diseases, treatments, or interventions being studied.
The study analyzed 205 albino Swiss CD-1 mice, of which 126 presented visual problems. A loss of function in the cones, cells responsible for daytime vision and color distinction, was detected. In 2.4% of the animals, the retinal dysfunction was severe, also affecting the rods (low-light vision cells) and was compatible with blindness.
The identified cause is a mutation in the Gnat2 gene, essential for cones to convert light into electrical signals. Alterations in this gene are associated with achromatopsia, a rare disease that hinders color perception and can cause reduced visual acuity and high light sensitivity.
Researchers emphasize that the presence of these unnoticed visual disabilities in research mice can lead to misinterpretations of performance in behavioral tests, affecting the validity of the results.
Analysis of retinal tissue also revealed neuroinflammation, neuron death, and alterations in the blood vessel network in affected mice. These findings, which also involve the University of Alcalá, highlight the importance of verifying the visual function and genetic characteristics of animals before their use in research. Furthermore, these mice could be used to study achromatopsia.
Based on information from the official source: CNB-CSIC — Centro Nacional de Biotecnología (21/10/2026)