Otof^tm2.1Erei
Targeted Allele Detail

Summary

• Symbol: Otof^tm2.1Erei
• Name: otoferlin; targeted mutation 2.1, Ellen Reisinger
• MGI ID: MGI:5824015
• Synonyms: Otof^515T
• Gene: Otof Location: Chr5:30524406-30619276 bp, - strand Genetic Position: Chr5, 16.48 cM, cytoband B1
• Alliance: Otof^tm2.1Erei page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:238751
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Otof Mutation: 110 strains or lines available

References

• Original: J:238751 Strenzke N, et al., Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants. EMBO J. 2016 Dec 01;35(23):2519-2535
• All: 1 reference(s)