A loxP site was inserted upstream of a modified exon 7 in which a C to T point mutation results in the amino acid substitution of cysteine for arginine at position 247 (R247C). This mutation mimics a rare variant identified in humans. Flp-mediated recombination removed an FRT flanked neomycin resistance cassette inserted downstream of exon 8, leaving single loxP and FRT sites. (J:212664)