Site-directed mutagenesis was used to alter the codon for serine 273 to alanine (TCA to GCA) (p.S273A). This blocks phosphorylation of that residue in the encoded peptide. A loxP site flanked neomycin resistance gene cassette that was inserted into an intron, was removed through subsequent cre-mediated recombination. (J:296627)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count