ArticleAnimal models and experimental medicine2025
Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes.
Article in Animal models and experimental medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes.Animal models and experimental medicine · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
backgroundSpinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease marked by significant clinical and genetic heterogeneity, primarily caused by expanded CAG mutations in the ATXN2 gene. The unstable expansion of CAG repeats disrupts the genetic stability of animal models, which is detrimental to disease research.
methodsIn this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. A 23 CAG control mouse model was also generated to verify ATXN2 integration and expression.
resultsIn our model, the number of CAG repeats remained stable during transmission, with no CAG repeat expansion observed in 64 parent-to-offspring transmissions. Compared with SCA2-Q23 mice, SCA2-Q73 mice exhibited progressive motor impairment, reduced Purkinje cell count and volume (indicative of cell atrophy), and muscle atrophy. These observations in the mice suggest that the behavioral and neuropathological phenotypes may reflect the features of SCA2 patients. RNA-seq analysis of the gastrocnemius muscle in SCA2-Q73 mice showed significant changes in muscle differentiation and development gene expression at 56 weeks, with no significant differences at 16 weeks compared to SCA2-Q23 mice. The expression level of the Myf6 gene significantly changed in the muscles of aged mice.
conclusionIn summary, the establishment of this model not only provides a stable animal model for studying CAG transmission in SCA2 but also indicates that the lack of long-term neural stimulation leads to muscle atrophy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.