Serine codon 120 (AGC) in exon 5 was changed to alanine (GCC) (p.S120A) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 3. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation turns the affected residue in the encoded peptide from phosphorylatable to unphosphorylatable. (J:308469)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count