Glutamic acid codon 64 (GAG) in exon 3 was changed to aspartic acid (GAC) (p.E64D) 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