Tyrosine codon 30 (TAC) was targeted for change to glutamic acid (GAA)(p.Y30E) with an sgRNA (targeting GAAGATTACCCGCCCGAGAA) and an ssODN template (CAGTATCTAGAGGACCTTGAAGATGTGGACCTCAAGAAATTCAAAATGCATTTGGAAGATGAACCGCCCGAGAAAGGCTGTATCCCAGTCCCCAGGGGCCAGATGGAGAAGGCAGATCACTTG) using CRISPR/Cas9 technology. The mutation mimics phosphorylation at that residue in the encoded peptide. (J:291770)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count