OMIA:002473-9483 : Ataxia, spinocerebellar, ATXN3-related in Callithrix jacchus |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607047 (gene) , 109150 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific description: 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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ATXN3 | ataxin 3 | Callithrix jacchus | 10 | NC_071451.1 (122841108..122794048) | ATXN3 | Homologene, Ensembl , NCBI gene |
Reference
| 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 Tammen2 on 04 Nov 2021
- Changed by Imke Tammen2 on 04 Nov 2021