The inner ear phenotype of Volchok (Vlk): an ENU-induced mouse model for CHARGE syndrome.
Objective: The Volchok (Vlk) mouse originated as a part of a large-scale ENU program on a C3HeB/FeJ background. The mice present a dominant pattern of inheritance refl ected mainly by circling activity, which led us to search for the causative mutation underlying the vestibular phenotype. Study desi...
| Publicado en: | Audiological Medicine Vol. 8; no. 3; pp. 110 - 120 |
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| Autores principales: | , , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
2010
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104962225&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104962225 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 1651386X REQ jtl: Audiological Medicine issn: 1651386X maglogo: Y pubinfo: dt: 2010 vid: 8 iid: 3 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 104962225 2010875968 10.3109/1651386X.2010.490039 104962225 ppf: 110 ppct: 10 formats: fmt: @attributes: type: P tig: atl: The inner ear phenotype of Volchok (Vlk): an ENU-induced mouse model for CHARGE syndrome. aug: au: Lenz, Danielle R. Dror, Amiel A. Wekselman, Guy Fuchs, Helmut de Angelis, Martin Hrabé Avraham, Karen B. affil: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Karena@post.tau.ac.il sug: subj: CHARGE Syndrome Ear, Inner Hearing Disorders Phenotype Animal Studies Cochlea Funding Source Mice Microscopy, Electron, Scanning Models, Biological Research Methodology Vestibule, Labyrinth ab: Objective: The Volchok (Vlk) mouse originated as a part of a large-scale ENU program on a C3HeB/FeJ background. The mice present a dominant pattern of inheritance refl ected mainly by circling activity, which led us to search for the causative mutation underlying the vestibular phenotype. Study design: Linkage analysis and subsequent sequencing were used to narrow down the genomic region and uncover the mutation, respectively. Behavioral analysis and examination of the inner ear phenotype was performed using the modifi ed SHIRPA protocol, auditory brainstem response (ABR), immunofl uorescence, light microscopy, scanning electron microscopy (SEM), paint-fi ll and neurofi lament staining techniques. Results: A nonsense mutation was discovered in the Chd7 gene responsible for CHARGE syndrome in humans, which leads to a decrease in Chd7 expression in the nuclei of the vestibular and cochlear cells and structural abnormalities in the inner ear. A mild hearing loss was found in the mutant mice. The malformations detected include a truncated lateral semicircular canal and smaller lateral crista, a decrease in size or absence of the round window in the cochlea and lack of innervations to the posterior crista. Conclusion: Vlk joins a series of previously characterized mice bearing a Chd7 mutation, linking abnormalities found both in ENU-induced mutants and a knock-out mouse model. Combining the information from multiple Chd7 alleles provides a more comprehensive understanding of the mechanisms underlying this human disease. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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