Site-directed mutagenesis was used to insert nucleotide substitutions in exon 19 of the locus, altering tyrosine to phenylalanine at codon 788 (Y788F -; TAC to TTC) and codon 798 (Y798F - TAT to TTT) and introducing an EcoR1 site. The substitutions were initially described as Y769F and Y779F respectively. In addition, a FRT-flanked neomycin-resistance gene followed by a loxP site is located upstream of exon 19. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:303230)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count