The targeting construct introduced into the locus a loxP site, a cDNA encoding wild-type exon 13-14 with a polyadenylation sequence, an FRT-flanked neomycin resistance cassette with a 3' loxP site, a modified exon 13 with a nucleotide substitution that results in the amino acid substitution of phenylalanine for leucine at position 514, and a 3xFLAG tag on exon 14. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination is required to achieve expression of the modified exon 13. (J:257774)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count