A point mutation (TCA to GCA) in exon 20 results in the amino acid substitution of alanine for serine at position 999 (S999A). Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette. (J:244749)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count