Exon 4 was replaced with an FRT-flanked neomycin resistance cassette and a modified exon 4 in which a G to A point mutation results in the amino acid substitution of glutamine for arginine at position 314 (R314Q). Flp-mediated recombination removed the selection cassette. (J:230689)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count