The targeting construct inserted an FRT-flanked neomycin resistance cassette downstream of exon 4 and a modified exon 5 with the mutation that corresponds to the amino acid substitution of tyrosine with phenylalanine at position 211 (Y211F). Flp-mediated recombination removed the selection cassette. (J:311101, J:325280)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count