Two substitutions (AC>GA) were engineered to change codon 522 in exon 8 from threonine to glutamine (p.Thre522Glu). Glutamine is a phosphomimetic, simulating a phosphorylated threonine and rendering the protein constitutively active. A loxP site and an FRT site flanked selectable marker cassette were inserted into intron 7. The marker cassette was removed through subsequent flp-mediated recombination. (J:241351)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count