Kcnd3 F227del mutant mice – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): KCND3
Repeat size or mutation: Knock-in of Kcnd3 F227del, both heterozygous and homozygous
Animal model: Mouse

Model Details

Mouse strain / background: B6N x C57BL/6J
Type of model: knockin

Phenotype

Hallmark features: Motor coordination impairments, Purkinje cell degeneration, neuroinflammation, degeneration of Golgi apparatus, degeneration of mitochondria, degeneration of ER

Source & Publications

Originating lab / institution: National Yang Ming Chiao Tung University
Links to publications or public resources: A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning - PubMed

National Ataxia Foundation

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