A loxP site and FRT flanked neo cassette were inserted in intron 44, a synthetic Poly A signal, F3 flanked puro cassette and loxP site were inserted after exon 51, and a repeat of exons 45-51 with a CG7742-7743>AC (p.R2482H) mutation in exon 51 were inserted via homologous recombination. Recombinase mediated recombination removed the neo and puro cassettes, exons 45-51and the synthetic PolyA sequence allowing expression of the mutated exon 51. (J:261124)