R116C mutant TMEM-FL – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): TMEM240
Repeat size or mutation: AAV9 with R116C mutant TMEM-FL in cerebellar neurons
Animal model: Mouse

Model Details

Mouse strain / background: C57BL/6J
Type of model: Induced (AAV9 infection)

Transgenic Construct

Transgenic construct: sequence type: TMEM240 human CDNA
Transgenic construct: details: TMEM240 human CDNA were cloned in AAV9 vectors under the regulation of a neuron-specific synapsin 1 promoter. The R116C mutation was introduced using PrimeStar mutagenesis basal kit. AAV9 vectors were injected in cerebella of 4 week-old-mice
Promoter: gene: synapsin 1

Phenotype

Progression: progressive
Hallmark features: Impaired motor coodrination, activation of microglia and astrocytes, autophagic lysosomal protein degradation, neural cell death

Source & Publications

Originating lab / institution: Kumamoto University
Links to publications or public resources: Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240 - PubMed

National Ataxia Foundation

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