Serine codons 22 (TCT), 25 (AGC) and 28 (TCC) were targeted for mutation to alanine codons (GCT, GCC, GCT) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This allele contains all three mutations (p.S22A, p.S25A, p.S28A (p.S3A, p.S6A, p.S9A in mature protein)). The mutations block phosphorylation of the residues in the encoded peptide. (J:326013)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count