CRISPR-targeting floxed the endogenous exon 2 and inserted an exon 2 with a point mutations encoding the amino acid substitution lysine to threonine at position 71 (K71T). This mutation produces a protein with hyper-accurate translation. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette. (J:284101)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count