The targeting vector introduced an FRT-flanked neomycin resistance cassette into intron 5 and replaced exon 6 with a modified one with the mutation responsible for the amino acid substitution cysteine with tyrosine atposition 456 (C456Y). Flp-mediated recombination removed the selection cassette. (J:289555)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count