RNAi of F18A1.6 impaired locomotion in a thrashing assay, compared to empty-vector control. In contrast, ok3062 animals displayed enhanced thrashing, compared to N2. We are currently quantifying thrashing behavior in animals exposed to RNAi of F18A1.7. Our laboratory is also generating transgenic animals to characterize the expression pattern of F18A1.6 and to test for rescue by human C9ORF72. GFP reporter strains are being screened for neuroanatomical defects that might underlie the thrashing phenotypes of F18A1.6 mutants.
Boeve FB, Boylan BB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, et al. (2012) Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135, 765-783.
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