The targeting construct replaced a portion of exon 1 with a floxed human cDNA with the mutation responsible for the amino acid substitution of arginine with histidine at position 124 (R124H), polyadenylation sequence, and FRT-flanked neomycin resistance cassette. Flp-mediated recombination removed the selection cassette. (J:238525)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count