Using an sgRNA (targeting CCACTTCAAGTACCCAATCG) and an ssODN template (GTGAAGAGAGGCTGAAGTAATAGCTCAAGTAGATACATGCCAACAGTATAACCACAAATGTCACCAGCCGGCAGCTAATGTATTTCATGATTAAATGACTCGCGTTCTTTTTTGTCTTCAAGTACTGCTCAACGATTGGGTACTTGAAGTGGCTTTCAGATATCTCCCACAGACTGAAAAACAAAGCAAATAAAAATAAT) with CRISPR/Cas9 technology, serine codon 205 (TCT) was changed to alanine (GCG)(p.S205A). This mutation renders residue 205 non-phosphorylatable. (J:314437)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count