A point mutation was engineered in exon 2, changing lysine codon 46 to methionine (p.K46M). The FRT site flanked puromycin resistance gene cassette that was inserted into intron 5 was removed through subsequent flp-mediated recombination. The amino-acid substitution in the kinase domain of the encoded peptide creates a kinase-dead protein. (J:274583)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count