A targeting vector consisting of loxP-flanked human alpha-synuclein, followed by a C-terminally truncated human alpha-synuclein lacking 21 amino acids, IRES, a placental alkaline phosphatase (pLAP) reporter gene, and an FRT-flanked neomycin gene was targeted to exon 3, thereby disrupting the mouse gene and placing the wild-type human gene under the control of the endogenous mouse regulatory region. The neomycin selection cassette was removed via flp-mediated recombination. Protein expression of the wild-type human alpha-synuclein is detected, as is the human mutated alpha-synuclein, indicating read-through transcription. However, expression of the human mutant protein is approximately 4-fold lower than in the derivative allele expressing only the mutant SNCA (Sncatm2.1(SNCA*)Ge). The truncation terminates with aspartic acid at residue 119 (120 CCT to TAA) and favors fibrillary aggregate formation. (J:314280)
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