| Primary Identifier | MGI:7543358 | Allele Type | Endonuclease-mediated |
| Gene | Slc26a5 | Strain of Origin | FVB/NJ |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Using mice with the Slc26a5em1Kazh allele (where arginine codon 130 (AGA) in exon 5 was changed to serine (AGT) (c.390A>T, p.R130S)) a second mutation was introduced: serine codon 396 (TCC) in exon 11 was changed to aspartic acid (GAC) (p.S396D) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The first mutation is the equivalent of the same human mutation (c.390A>C) associated with bilateral sensorineural hearing loss. The second mutation renders the encoded peptide constitutively active, mimicking the chloride-bound state, which compensates for the effects of the first mutation. |
