Arginine codon 186 (CGA) in exon 6 was changed to tryptophan (TGG) (p.R186W) using crRNA, tracrRNA and an ssODN template with CRISPR/Cas9 technology. The mutation affects mechanoelectrical transduction (MET) by cochlear hair cells and causes deafness. (J:307668)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count