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Targeted Allele Detail
Symbol: Otoftm1Ugds
Name: otoferlin; targeted mutation 1, Unite de Genetique des Deficits Sensoriels
MGI ID: MGI:3640614
Synonyms: Otof-
Gene: Otof  Location: Chr5:30367062-30461932 bp, - strand  Genetic Position: Chr5, 16.48 cM, cytoband B1
Germline Transmission:  Earliest citation of germline transmission: J:116097
Parent Cell Line:  CK35 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsExons 14 and 15, encoding most of the C2C domain of the protein, have been deleted. RT-PCR analysis of cochleae of homozygous mutant mice confirmed the presence of an mRNA lacking the sequence encoded by the deleted exons. Translation of this mRNA would be frame-shifted, leading to a premature termination codon; absence of the expected truncated protein in homozygous mutant cochleae was demonstrated by immunohistolabeling and immunoblot analysis. (J:116097)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  61 strains or lines available
Original:  J:116097 Roux I, et al., Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006 Oct 20;127(2):277-89
All:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
The Jackson Laboratory