The targeting construct replaced the wild-type exon 22 with an FRT-flanked neomycin resistance cassette and a modified exon 22 encoding the amino acid substitution serine for isoleucine at position 839 (S839I). Flp-mediated recombination removed the selection cassette. (J:312353)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count