Otof^tm2.1Erei

A double substitution was introduced in an isoleucine codon in exon 14 causing a I514T mutation in the translated peptide. This mimics the mutation that gives rise to a deafness related I515T mutation in the isoform e peptide coded for by the human ortholog. An additional silent mutation was introduced 10 bp upstream of the targeted codon to create a KpnI restriction site for diagnostic purposes. A loxP flanked neomycin resistance gene cassette was inserted into intron 14. The neo cassette was subsequently removed through cre-mediated recombination. (J:238751)