A proximal loxP site and FRT-flanked PGK-neomycin cassette were inserted in intron 41, a distal loxP site was inserted in intron 42, and G2019S mutation was inserted in exon 41 via homologous recombination. Flp mediated recombination removed the neo cassette. The expressed protein is resilient to kinase inhibition. (J:147112, J:268603)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count