OMIA:002473-9483 : Ataxia, spinocerebellar, ATXN3-related in Callithrix jacchus (white-tufted-ear marmoset) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607047 (gene) , 109150 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Species summary: Tomioka et al. (2020) "reported the generation of the first transgenic marmoset model of spinocerebellar ataxia type 3 and successful obtainment of subsequent generations with stable disease onset." This study involves genetically modified organisms (GMO). Minakawa et al. (2025) "produced second-generation marmosets from one symptomatic founder marmoset ... , one of five founder transgenic marmosets ... generated in our previous study (Tomioka et al., 2017)."
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ATXN3 | ataxin 3 | Callithrix jacchus | 8 | NC_133509.1 (126955401..126908397) | ATXN3 | Ensembl, NCBI gene |
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002473-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2025 | Minakawa, E.N., Owari, K., Nogami, N., Nakatani, T., Koizumi, M., Kawanobe, A., Saga, Y., Kudo, M., Noguchi, S., Hanakawa, T., Hori, Y., Numazawa, H., Takeuchi, T., Katakai, Y., Saito, R., Nagai, Y., Saito, Y., Tomioka, I., Seki, K. : |
| Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease. Dis Model Mech 18:dmm052470, 2025. Pubmed reference: 41170805. DOI: 10.1242/dmm.052470. | |
| 2020 | Tomioka, I., Nagai, Y., Seki, K. : |
| Generation of common marmoset model lines of spinocerebellar ataxia type 3. Front Neurosci 14:548002, 2020. Pubmed reference: 33071733. DOI: 10.3389/fnins.2020.548002. |
Edit History
- Created by Imke Tammen on 04 Nov 2021
- Changed by Imke Tammen on 04 Nov 2021
- Changed by Imke Tammen on 10 Dec 2023
- Changed by Imke Tammen on 13 Oct 2026