CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

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 L...

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Auteurs principaux:	Jacqueline M Ogier, Marina R Carpinelli, Benedicta D Arhatari, R C Andrew Symons, Benjamin T Kile, Rachel A Burt
Format:	article
Langue:	EN
Publié:	Public Library of Science (PLoS) 2014
Sujets:	Medicine R Science Q
Accès en ligne:	https://doaj.org/article/691b24bcc35f4517b1e9cb1c0a99c15f
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spelling	oai:doaj.org-article:691b24bcc35f4517b1e9cb1c0a99c15f2021-11-18T08:18:51ZCHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.1932-620310.1371/journal.pone.0097559https://doaj.org/article/691b24bcc35f4517b1e9cb1c0a99c15f2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24840056/?tool=EBIhttps://doaj.org/toc/1932-6203CHARGE 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.Jacqueline M OgierMarina R CarpinelliBenedicta D ArhatariR C Andrew SymonsBenjamin T KileRachel A BurtPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 5, p e97559 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jacqueline M Ogier Marina R Carpinelli Benedicta D Arhatari R C Andrew Symons Benjamin T Kile Rachel A Burt CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
description	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.
format	article
author	Jacqueline M Ogier Marina R Carpinelli Benedicta D Arhatari R C Andrew Symons Benjamin T Kile Rachel A Burt
author_facet	Jacqueline M Ogier Marina R Carpinelli Benedicta D Arhatari R C Andrew Symons Benjamin T Kile Rachel A Burt
author_sort	Jacqueline M Ogier
title	CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
title_short	CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
title_full	CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
title_fullStr	CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
title_full_unstemmed	CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
title_sort	chd7 deficiency in "looper", a new mouse model of charge syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/691b24bcc35f4517b1e9cb1c0a99c15f
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CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

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