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

Jacqueline M Ogier, Marina Carpinelli, Benedicta D Arhatari, RC Andrew Symons, Benjamin T. Kile, Rachel A Burt

Research output: Contribution to journalArticleResearchpeer-review

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 otosclerosislike 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. ? 2014 Ogier et al.
Original languageEnglish
Article numbere97559
Number of pages11
JournalPLoS ONE
Volume9
Issue number5
DOIs
Publication statusPublished - 2014
Externally publishedYes

Cite this

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title = "CHD7 deficiency in {"} Looper{"}, a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment",
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 otosclerosislike 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. ? 2014 Ogier et al.",
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CHD7 deficiency in " Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. / Ogier, Jacqueline M; Carpinelli, Marina; Arhatari, Benedicta D; Symons, RC Andrew; Kile, Benjamin T.; Burt, Rachel A.

In: PLoS ONE, Vol. 9, No. 5, e97559, 2014.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - CHD7 deficiency in " Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment

AU - Ogier, Jacqueline M

AU - Carpinelli, Marina

AU - Arhatari, Benedicta D

AU - Symons, RC Andrew

AU - Kile, Benjamin T.

AU - Burt, Rachel A

PY - 2014

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AB - 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 otosclerosislike 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. ? 2014 Ogier et al.

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