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)

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).

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].


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