Article
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.
Neuron - 6 Feb 2003
Yoo Seung Yun, Pennesi Mark E, Weeber Edwin J, Xu Bisong, Atkinson Richard, Chen Shiming, Armstrong Dawna L, Wu Samuel M, Sweatt J David, Zoghbi Huda Y
Abstract excerpt
We targeted 266 CAG repeats (a number that causes infantile-onset disease) into the mouse Sca7 locus to generate an authentic model of spinocerebellar ataxia type 7 (SCA7). These mice reproduced features of infantile SCA7 (ataxia, visual impairments, and premature death) and showed impaired short-term synaptic potentiation; downregulation of photoreceptor-specific genes, despite apparently normal CRX activity,...
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