A loxP site was inserted upstream of exon 13. A lox511 site, a inverted and modified exon 13 with a point mutation (GTC to TTC) that results in the amino acid substitution of phenylalanine for valine at position 617 (V617F) and a loxP site were inserted downstream of of exon 13. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of the modified exon 13 and left a lox511 site downstream of the modified exon 13. (J:202234)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count