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Article: A novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness

TitleA novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness
Authors
Issue Date2016
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Citation
PLoS One, 2016, p. article no. e0154984 How to Cite?
AbstractMouse N-ethyl-N-nitrosourea (ENU) mutagenesis has generated many useful animal models for human diseases. Here we describe the identification of a novel ENU-induced mouse mutant strain Turner (Tur) that displays circling and headtossing behavior and progressive hearing loss. Tur/Tur homozygous animals lack Preyer and righting reflexes and display severe headtossing and reaching response defect. We mapped the Tur mutation to a critical region of 11 cM on chromosome 9 that includes myosin VI. Direct sequence analysis revealed a c.820A>T substitution in exon 8 of the Myo6 gene that changes amino acid Asn200 to Ile (p.N200I) in the motor domain. Analysis of inner ear hair cells by immunohistochemistry, scanning electron microscopy and histology revealed degeneration of hair cells in the inner ear and structural malformation of the stereocilia in the cochlea of Turner homozygous mutant mice. Our data indicate that this novel mouse strain provides a useful model for future studies on the function of myosin VI in mammalian auditory and non-auditory systems and in human syndromes.
Persistent Identifierhttp://hdl.handle.net/10722/225459
ISSN
2015 Impact Factor: 3.057
2015 SCImago Journal Rankings: 1.395
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWong, YME-
dc.contributor.authorXu, CY-
dc.contributor.authorBrahmachary, M-
dc.contributor.authorXu, PX-
dc.date.accessioned2016-05-17T04:33:28Z-
dc.date.available2016-05-17T04:33:28Z-
dc.date.issued2016-
dc.identifier.citationPLoS One, 2016, p. article no. e0154984-
dc.identifier.issn1932-6203-
dc.identifier.urihttp://hdl.handle.net/10722/225459-
dc.description.abstractMouse N-ethyl-N-nitrosourea (ENU) mutagenesis has generated many useful animal models for human diseases. Here we describe the identification of a novel ENU-induced mouse mutant strain Turner (Tur) that displays circling and headtossing behavior and progressive hearing loss. Tur/Tur homozygous animals lack Preyer and righting reflexes and display severe headtossing and reaching response defect. We mapped the Tur mutation to a critical region of 11 cM on chromosome 9 that includes myosin VI. Direct sequence analysis revealed a c.820A>T substitution in exon 8 of the Myo6 gene that changes amino acid Asn200 to Ile (p.N200I) in the motor domain. Analysis of inner ear hair cells by immunohistochemistry, scanning electron microscopy and histology revealed degeneration of hair cells in the inner ear and structural malformation of the stereocilia in the cochlea of Turner homozygous mutant mice. Our data indicate that this novel mouse strain provides a useful model for future studies on the function of myosin VI in mammalian auditory and non-auditory systems and in human syndromes.-
dc.languageeng-
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.action-
dc.relation.ispartofPLoS One-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleA novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness-
dc.typeArticle-
dc.identifier.emailWong, YME: elainewg@hku.hk-
dc.identifier.authorityWong, YME=rp01718-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1371/journal.pone.0154984-
dc.identifier.pmid27171474-
dc.identifier.pmcidPMC4865150-
dc.identifier.scopuseid_2-s2.0-84971324323-
dc.identifier.hkuros267223-
dc.identifier.spagearticle no. e0154984-
dc.identifier.epagearticle no. e0154984-
dc.identifier.isiWOS:000376588600003-
dc.publisher.placeUnited States-

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