Otof^em1Bros
Endonuclease-mediated Allele Detail

Summary

• Symbol: Otof^em1Bros
• Name: otoferlin; endonuclease-mediated mutation 1, Nils Brose
• MGI ID: MGI:7571451
• Synonyms: Otof^{em1(I1573T)Bros}, Otof^I1573T
• Gene: Otof Location: Chr5:30524406-30619276 bp, - strand Genetic Position: Chr5, 16.48 cM, cytoband B1
• Alliance: Otof^em1Bros page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: This mouse line was generated by site-directed CRISPR-Cas9 mutagenesis in C57BL/6NCrl mice causing a I1553T mutation (uniprot Q9ESF1-3). This mimics the mutation that gives rise to a deafness related I1573T mutation in the isoform e peptide coded for by the human ortholog. Additional silent mutations were introduced. The mutated exon38 now reads:(5')gtcctttgacattgaggcctccttccccatggagtccatgttgacagtggccgtgtacgactgggatctggtgggcactgatgaTctcaCcggCgaaaccaagattgacctggaaaaccgcttctacagcaagcaCcgcgcAacAtgcggcatcgcacagacctattccat(3'). (J:343835)
• Inheritance: Not Specified

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:343835 Chen H, et al., Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing. Protein Cell. 2023
• All: 1 reference(s)