The targeting vector is designed to substitute an alanine for serine at codon 55 (S55A) by introducing a point mutation (c.163 TCT to GCT). The mutation is located in exon 2. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:257477)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count