OMIA 002473-9483 : Ataxia, spinocerebellar, ATXN3-related in Callithrix jacchus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ATXN3 ataxin 3 Callithrix jacchus 10 NC_048392.1 (123512355..123470531) 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