CRISPR/Cas9 technology generated a 103 bp insertion between nucleotides 217 and 218 in exon 1. The frameshift caused by the insertion creates an early stop codon. Immunostaining shows absence of protein in stereocilia and support cells. (J:271271)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count