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Article: A novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness
Title | A novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness |
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Authors | |
Issue Date | 2016 |
Publisher | Public 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? |
Abstract | Mouse 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 Identifier | http://hdl.handle.net/10722/225459 |
ISSN | 2021 Impact Factor: 3.752 2020 SCImago Journal Rankings: 0.990 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Wong, YME | - |
dc.contributor.author | Xu, CY | - |
dc.contributor.author | Brahmachary, M | - |
dc.contributor.author | Xu, PX | - |
dc.date.accessioned | 2016-05-17T04:33:28Z | - |
dc.date.available | 2016-05-17T04:33:28Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | PLoS One, 2016, p. article no. e0154984 | - |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | http://hdl.handle.net/10722/225459 | - |
dc.description.abstract | Mouse 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.language | eng | - |
dc.publisher | Public Library of Science. The Journal's web site is located at http://www.plosone.org/home.action | - |
dc.relation.ispartof | PLoS ONE | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | A novel ENU-induced mutation in Myo6 causes vestibular dysfunction and deafness | - |
dc.type | Article | - |
dc.identifier.email | Wong, YME: elainewg@hku.hk | - |
dc.identifier.authority | Wong, YME=rp01718 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1371/journal.pone.0154984 | - |
dc.identifier.pmid | 27171474 | - |
dc.identifier.pmcid | PMC4865150 | - |
dc.identifier.scopus | eid_2-s2.0-84971324323 | - |
dc.identifier.hkuros | 267223 | - |
dc.identifier.spage | article no. e0154984 | - |
dc.identifier.epage | article no. e0154984 | - |
dc.identifier.isi | WOS:000376588600003 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 1932-6203 | - |