Site-directed mutagenesis was used to insert nucleotide substitutions in exon 10 of the locus, altering leucine to alanine at codon 443 (L443A - CTG to GCC) and arginine to alanine at codon 445 (R445A - AGA to GCA) and introducing an Xma1 site. The substitutions were initially described as L424A and R426A respectively. In addition, a FRT-flanked neomycin-resistance gene followed by a loxP site was located upstream of exon 10. 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