CHD7 deficiency in " Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment
Date
2014
Authors
Ogier, J.M.
Carpinelli, M.R.
Arhatari, B.D.
Symons, R.C.A.
Kile, B.T.
Burt, R.A.
Editors
Anderson, M.G.
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Journal article
Citation
PLoS ONE, 2014; 9(5):e97559-1-e97559-11
Statement of Responsibility
Jacqueline M. Ogier, Marina R. Carpinelli, Benedicta D. Arhatari, R. C. Andrew Symons, Benjamin T. Kile, Rachel A. Burt
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Abstract
CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.
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© 2014 Ogier et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.