Slc26a5^em1Kazh

Arginine codon 130 (AGA) in exon 5 was changed to serine (AGT) (c.390A>T, p.R130S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation (c.390A>C) associated with bilateral sensorineural hearing loss. An additional silent mutation (c.387A>G, p.S129S) was introduced to create a diagnostic XhoI restriction site, replacing the wildtype Hpy188III site. (J:341102)