The targeting vector is designed to introduce a single A to G point mutation in base pair 904 of exon 7, and a FRT site flanked NEO cassette downstream of exon 7 of the gene. The point mutation results in a lysine to glutamic acid (K302 to E302). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:236940)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count