The coding sequence for serine at codon 375 (TCC) has been replaced using PCR with the coding sequence of alanine (GCC). An FRT flanked PKG-neomycin selection cassette was placed in intron 3. Exons 2 and 3 were also flanked by loxP sites. The selection cassette was subsequently removed by flp-mediated recombination. (J:176122)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count