Otof^em3Bros
Endonuclease-mediated Allele Detail

Summary

• Symbol: Otof^em3Bros
• Name: otoferlin; endonuclease-mediated mutation 3, Nils Brose
• MGI ID: MGI:7571453
• Synonyms: Otof^D1841/1842A, OtofM^DDA
• Gene: Otof Location: Chr5:30524406-30619276 bp, - strand Genetic Position: Chr5, 16.48 cM, cytoband B1
• Alliance: Otof^em3Bros page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: This mouse line was generated by site-directed CRISPR-Cas9 mutagenesis in C57BL/6NCrl mice causing a D1821A/D1822A mutation (Corresponds to D1841A/D1842A mutation in the isoform e peptide coded for by the human ortholog). Additional silent mutations were introduced. The mutated exon38 now reads:(5')gtggctgaagggccagcaggaggacaaacaggacacagatgtccactatcactccctcacgggggagggcaacttcaactggagatacctcttccccttcgactacctagcggccgaagagaagatcgttatgtccaaaaaggagtctatgttctcctgggatgagacggagtacaagatccctgcgcggctcaccctgcagatctgggacgctgaTcacttctcggctgCTgCcttcctgg (3') (J:344236)
• 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: 108 strains or lines available

References

• Original: J:344236 Chen H, et al., Probing the role of the C(2)F domain of otoferlin. Front Mol Neurosci. 2023;16:1299509
• All: 1 reference(s)