Cysteine codon 362 (TGC) was targeted for change to serine (AGC)(p.C362S) with an sgRNA (targeting CACCGTTTCATTCAGGCTTGCCA) and an ssODN template (CACTGGTTCAAAGTGCCCTTCCCTGTCTGGGAAACCCAAGATCTTTTTCATTCAGGCTAGCCAAGGAAGTAACTTCCAGAAAGGAGTGCCTGATGAGGCAGGCTTCGAGCAACAGAAC) using CRISPR/Cas9 technology. The mutation renders the encoded peptide enzymatically inactive. (J:285930)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count