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 just the p.S28A (p.S9A in mature protein) mutation. The mutation blocks phosphorylation of the residue 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