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

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: