An A-to-T change resulting in a tyrosine to phenylalanine substitution at amino acid 55 (p.Y55F) was introduced in exon 1 and an FRT-flanked neomycin selection cassette was inserted downstream of exon 1. Flp-mediated recombination removed the selection cassette. (J:308292)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count