Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Otoftm1.1Erei
Name:	otoferlin; targeted mutation 1.1, Ellen Reisinger
MGI ID:	MGI:4950055
Gene:	Otof  Location: Chr5:30524406-30619276 bp, - strand  Genetic Position: Chr5, 16.48 cM, cytoband B1
Alliance:	Otoftm1.1Erei page

Germline Transmission:	Earliest citation of germline transmission: J:171203
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A floxed neo cassette replaced exons 14 and 15. Cre-mediated recombination removed the neo cassette. The absence of protein expression was confirmed by immunohistochemistry on cochlea samples. (J:171203)

View phenotypes and curated references for all genotypes (concatenated display).

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

Original:	J:171203 Reisinger E, et al., Probing the Functional Equivalence of Otoferlin and Synaptotagmin 1 in Exocytosis. J Neurosci. 2011 Mar 30;31(13):4886-4895
All:	7 reference(s)