The targeting construct introduced an FRT site flanked neomycin resistance gene cassette into intron 20 and a T->G point mutation in exon 21, changing leucine codon 860 (CTG) to arginine (CGG) (p.L860R). The locus was re-targeted to place a lox-Stop-lox (LSL) cassette in intron 1. Flp-mediated recombination removed the neo cassette. The mutation is the equivalent of the human p.L858R mutation associated with lung cancer susceptibility. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count