The targeting vector contains an FRT- and loxP-flanked neomycin cassette inserted upstream of exon 11 followed by a point mutation substitution isoleucine for the corresponding human residue, valine (I391V) in exon 11. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:267091)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count