Identification of a novel glutamate receptor 2 mutation in mice presenting progressive cerebellar ataxia
- 1The Institute for AIM Medicine (IAM)
Abstract
Ataxia is a condition characterized by impaired coordination of movements due to dysfunction of the cerebellum or related neural circuits. Here, we describe a mouse colony exhibiting progressive ataxia that arose spontaneously, which we have designated td. Whole genome sequencing and gene mapping revealed a 0.2 Mb tandem duplication involving exons 3 and 4 of the Grid2 gene, leading to premature termination of translation and reduced mRNA expression. Consistent with previous reports, our findings indicate that both structural and transcriptional abnormalities of Grid2 contribute to the observed phenotype. Notably, this type of variant in the Grid2 gene has not been identified. We observed atrophy of the granular and molecular layers and neuroinflammation in the granular layer of the td cerebellum, consistent with the role of Grid2 in Purkinje cell dendrites. Together, these findings establish td as a novel Grid2 mutant mouse model exhibiting cerebellar neurodegeneration.
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BibTeX
@article{eguchi2026identification,
title = {{Identification of a novel glutamate receptor 2 mutation in mice presenting progressive cerebellar ataxia}},
author = {Ayaka Eguchi and Natsumi Maehara and Aika Hirota and Yuri Yoshikawa and Keisuke Yasuda and Satoko Arai and Toru Miyazaki},
journal = {Scientific Reports},
year = {2026},
month = jul,
doi = {10.1038/s41598-026-62082-5},
url = {https://doi.org/10.1038/s41598-026-62082-5},
note = {CC BY},
}
RIS
TY - JOUR
TI - Identification of a novel glutamate receptor 2 mutation in mice presenting progressive cerebellar ataxia
AU - Ayaka Eguchi
AU - Natsumi Maehara
AU - Aika Hirota
AU - Yuri Yoshikawa
AU - Keisuke Yasuda
AU - Satoko Arai
AU - Toru Miyazaki
PY - 2026
DA - 2026/07/01
JO - Scientific Reports
DO - 10.1038/s41598-026-62082-5
UR - https://doi.org/10.1038/s41598-026-62082-5
AB - Ataxia is a condition characterized by impaired coordination of movements due to dysfunction of the cerebellum or related neural circuits. Here, we describe a mouse colony exhibiting progressive ataxia that arose spontaneously, which we have designated td. Whole genome sequencing and gene mapping revealed a 0.2 Mb tandem duplication involving exons 3 and 4 of the Grid2 gene, leading to premature termination of translation and reduced mRNA expression. Consistent with previous reports, our findings indicate that both structural and transcriptional abnormalities of Grid2 contribute to the observed phenotype. Notably, this type of variant in the Grid2 gene has not been identified. We observed atrophy of the granular and molecular layers and neuroinflammation in the granular layer of the td cerebellum, consistent with the role of Grid2 in Purkinje cell dendrites. Together, these findings establish td as a novel Grid2 mutant mouse model exhibiting cerebellar neurodegeneration.
SN - 2045-2322
ER -