Otof^tm2Ugds
Targeted Allele Detail

Summary

• Symbol: Otof^tm2Ugds
• Name: otoferlin; targeted mutation 2, Unite de Genetique des Deficits Sensoriels
• MGI ID: MGI:6466542
• Synonyms: Otof^{Ala515,Ala517}, Otof^C2C
• Gene: Otof Location: Chr5:30524406-30619276 bp, - strand Genetic Position: Chr5, 16.48 cM, cytoband B1
• Alliance: Otof^tm2Ugds page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:254993
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: Two missense mutations were generated in exon 15 that result in the alteration of codons 515 and 517 to endode alanine instead of aspartic acid. (J:254993)

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:254993 Michalski N, et al., Otoferlin acts as a Ca(2+) sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. Elife. 2017 Nov 7;6:e31013
• All: 2 reference(s)