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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 for all genotypes (concatenated display).
Disease models
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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:  42 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:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
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