A T-to-G mutation was engineered in exon 2 to change serine codon 30 (TCT) to an alanine codon (GCT)(p.S30A), making that residue unphosphorylatable in the encoded peptide. The loxP site flanked neomycin resistance gene that was inserted into intron 1 was removed through subsequent cre-mediated recombination. (J:286257)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count