Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.

Hearing research - 1 Dec 2007

Longo-Guess Chantal, Gagnon Leona H, Bergstrom David E, Johnson Kenneth R

Abstract excerpt

Mutations of the otoferlin gene have been shown to underlie deafness disorders in humans and mice. Analyses of genetically engineered mice lacking otoferlin have demonstrated an essential role for this protein in vesicle exocytosis at the inner hair cell afferent synapse. Here, we report on the molecular and phenotypic characterization of a new ENU-induced missense mutation of the mouse otoferlin gene designated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acoustic Stimulation
Share to Deafness
Share to Ethylnitrosourea

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Evoked Potentials, Auditory, Brain Stem

Share to Hair Cells, Auditory

Share to Mice, Inbred C3H

Share to Mutagens

Share to Protein Denaturation

Source

Open in PubMed Open full text

Identifiers

PMID: 17967520
DOI: 10.1016/j.heares.2007.09.005
PMCID: PMC2140949

Genes

ABR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.PMID 17967520Read ↗

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.Semantic proximity Read ↗

Otoferlin: a multi-C2 domain protein essential for hearing.Semantic proximity Read ↗

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.Semantic proximity Read ↗

Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.Semantic proximity Read ↗

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.Semantic proximity Read ↗

Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.Semantic proximity Read ↗

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.Semantic proximity Read ↗

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.Semantic proximity Read ↗

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.Semantic proximity Read ↗

Transcriptomics and phenotypic analysis of OTOF gene knockdown in zebrafish mediated by CRISPR/Cas9.Semantic proximity Read ↗

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.Semantic proximity Read ↗

Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.