Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome
dc.contributor.author | Adams, Meredith E. | en_US |
dc.contributor.author | Hurd, Elizabeth A. | en_US |
dc.contributor.author | Beyer, Lisa A. | en_US |
dc.contributor.author | Swiderski, Donald L. | en_US |
dc.contributor.author | Raphael, Yehoash | en_US |
dc.contributor.author | Martin, Donna M. | en_US |
dc.date.accessioned | 2007-09-20T18:58:58Z | |
dc.date.available | 2008-11-05T15:05:43Z | en_US |
dc.date.issued | 2007-10-10 | en_US |
dc.identifier.citation | Adams, Meredith E.; Hurd, Elizabeth A.; Beyer, Lisa A.; Swiderski, Donald L.; Raphael, Yehoash; Martin, Donna M. (2007)."Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome." The Journal of Comparative Neurology 504(5): 519-532. <http://hdl.handle.net/2027.42/56115> | en_US |
dc.identifier.issn | 0021-9967 | en_US |
dc.identifier.issn | 1096-9861 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/56115 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17701983&dopt=citation | |
dc.description.abstract | CHD7 is a chromodomain gene mutated in CHARGE syndrome, a multiple anomaly condition characterized by ocular c oloboma, h eart defects, a tresia of the choanae, r etarded growth and development, g enital hypoplasia, and e ar defects including deafness and semicircular canal dysgenesis. Mice with heterozygous Chd7 deficiency have circling behavior and semicircular canal defects and are an excellent animal model for exploring the pathogenesis of CHARGE features. Inner ear vestibular defects have been characterized in heterozygous Chd7 -deficient embryos and early postnatal mice, but it is not known whether vestibular defects persist throughout adulthood in Chd7 -deficient mice or whether the vestibular sensory epithelia and their associated innervation and function are intact. Here we describe a detailed analysis of inner ear vestibular structures in mature mice that are heterozygous for a Chd7 -deficient, gene-trapped allele ( Chd7 Gt/+ ). Chd7 Gt/+ mice display variable asymmetric lateral and posterior semicircular canal malformations, as well as defects in vestibular sensory epithelial innervation despite the presence of intact hair cells in the target organs. These observations have important functional implications for understanding the clinical manifestations of CHD7 mutations in humans and for designing therapies to treat inner ear vestibular dysfunction. J. Comp. Neurol. 504:519–532, 2007. © 2007 Wiley-Liss, Inc. | en_US |
dc.format.extent | 1715185 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Neuroscience, Neurology and Psychiatry | en_US |
dc.title | Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Neurosciences | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan, 48109 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan, 48109 | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan, 48109 | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan, 48109 | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan, 48109 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan, 48109 ; Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan, 48109 ; 1150 W. Medical Center Dr., 3520A MSRB I, Ann Arbor, MI 48109-0652 | en_US |
dc.identifier.pmid | 17701983 | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/56115/1/21460_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/cne.21460 | en_US |
dc.identifier.source | The Journal of Comparative Neurology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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