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-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).
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 | 10 | NC_071451.1 (122841108..122794048) | ATXN3 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002473-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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
- Changed by Imke Tammen2 on 10 Dec 2023