Eeyore: A Novel Mouse Model of Hereditary Deafness
Identifieur interne : 000288 ( Main/Exploration ); précédent : 000287; suivant : 000289Eeyore: A Novel Mouse Model of Hereditary Deafness
Auteurs : Kerry A. Miller [Australie] ; Louise H. Williams [Australie] ; Hans-Henrik M. Dahl [Australie] ; Shehnaaz S. M. Manji [Australie]Source :
- PLoS ONE ; 2013.
Abstract
Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a basis to guide therapeutic strategies to combat these conditions. We have identified a novel mouse model of non-syndromic sensorineural hearing loss with linkage to a region on chromosome 18.
Url:
DOI: 10.1371/journal.pone.0074243
PubMed: 24086324
PubMed Central: 3781070
Affiliations:
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Williams</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Dahl, Hans Henrik M" sort="Dahl, Hans Henrik M" uniqKey="Dahl H" first="Hans-Henrik M." last="Dahl">Hans-Henrik M. Dahl</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Manji, Shehnaaz S M" sort="Manji, Shehnaaz S M" uniqKey="Manji S" first="Shehnaaz S. 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Miller</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Williams, Louise H" sort="Williams, Louise H" uniqKey="Williams L" first="Louise H." last="Williams">Louise H. Williams</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Dahl, Hans Henrik M" sort="Dahl, Hans Henrik M" uniqKey="Dahl H" first="Hans-Henrik M." last="Dahl">Hans-Henrik M. Dahl</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Manji, Shehnaaz S M" sort="Manji, Shehnaaz S M" uniqKey="Manji S" first="Shehnaaz S. M." last="Manji">Shehnaaz S. M. Manji</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Hearing Research, Murdoch Childrens Research Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The HEARing CRC, Audiology, Hearing and Speech Sciences, University of Melbourne, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Department of Otolaryngology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Otolaryngology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="e-ISSN">1932-6203</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a basis to guide therapeutic strategies to combat these conditions. We have identified a novel mouse model of non-syndromic sensorineural hearing loss with linkage to a region on chromosome 18. <italic>Eeyore</italic> mutant mice have early onset progressive hearing impairment and show abnormal structure of the sensory epithelium from as early as 4 weeks of age. Ultrastructural and histological analyses show irregular hair cell structure and degeneration of the sensory hair bundles in the cochlea. The identification of new genes involved in hearing is central to understanding the complex genetic pathways involved in the hearing process and the loci at which these pathways are interrupted in people with a genetic hearing loss. We therefore discuss possible candidate genes within the linkage region identified in <italic>eeyore</italic> that may underlie the deafness phenotype in these mice. <italic>Eeyore</italic> provides a new model of hereditary sensorineural deafness and will be an important tool in the search for novel deafness genes.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bedell, Ma" uniqKey="Bedell M">MA Bedell</name></author><author><name sortKey="Jenkins, Na" uniqKey="Jenkins N">NA Jenkins</name></author><author><name sortKey="Copeland, Ng" uniqKey="Copeland N">NG Copeland</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rosenthal, N" uniqKey="Rosenthal N">N Rosenthal</name></author><author><name sortKey="Brown, S" uniqKey="Brown S">S Brown</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ahituv, N" uniqKey="Ahituv N">N Ahituv</name></author><author><name 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sortKey="Mooseker, Ms" uniqKey="Mooseker M">MS Mooseker</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Miller, Kerry A" sort="Miller, Kerry A" uniqKey="Miller K" first="Kerry A." last="Miller">Kerry A. Miller</name></noRegion><name sortKey="Dahl, Hans Henrik M" sort="Dahl, Hans Henrik M" uniqKey="Dahl H" first="Hans-Henrik M." last="Dahl">Hans-Henrik M. Dahl</name><name sortKey="Dahl, Hans Henrik M" sort="Dahl, Hans Henrik M" uniqKey="Dahl H" first="Hans-Henrik M." last="Dahl">Hans-Henrik M. Dahl</name><name sortKey="Dahl, Hans Henrik M" sort="Dahl, Hans Henrik M" uniqKey="Dahl H" first="Hans-Henrik M." last="Dahl">Hans-Henrik M. Dahl</name><name sortKey="Manji, Shehnaaz S M" sort="Manji, Shehnaaz S M" uniqKey="Manji S" first="Shehnaaz S. M." last="Manji">Shehnaaz S. M. Manji</name><name sortKey="Manji, Shehnaaz S M" sort="Manji, Shehnaaz S M" uniqKey="Manji S" first="Shehnaaz S. M." last="Manji">Shehnaaz S. M. Manji</name><name sortKey="Manji, Shehnaaz S M" sort="Manji, Shehnaaz S M" uniqKey="Manji S" first="Shehnaaz S. M." last="Manji">Shehnaaz S. M. Manji</name><name sortKey="Williams, Louise H" sort="Williams, Louise H" uniqKey="Williams L" first="Louise H." last="Williams">Louise H. Williams</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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