Inner Ear Defects Induced by Null Mutationof the isk Gene

Vetter, Douglas E.; Mann, Jeffrey R.; Wangemann, Philine; Liu, Jianzhong; McLaughlin, K. John; Lesage, Florian; Marcus, Daniel C.; Lazdunski, Michel; Heinemann, Stephen F.; Barhanin, Jacques

doi:10.1016/s0896-6273(00)80255-x

Cited by 371 publications

(269 citation statements)

References 65 publications

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“…Mutations in both KCNQ1 and KCNE1 cause Jervell and Lange-Nielsen syndrome in humans (Neyroud et al 1997;Schulze-Bahr et al 1997), a syndrome associated with ventricular tachyarrhythmias of the heart and deafness. Knockout mouse models for both genes show a collapsed membranous labyrinth indicative of endolymph secretion failure and disruption of fluid homeostasis in the inner ear (Vetter et al 1996;Lee et al 2000;Casimiro et al 2001). A spontaneous mouse mutant, Punk Rocker, with a nonsense mutation in Kcne1 that results in a truncated protein, also shows an inner ear phenotype similar to the knockout mice .…”

Section: Genes That Affect Fluid Homeostasismentioning

confidence: 97%

Molecular Genetics of Vestibular Organ Development

Chang¹,

Cole²,

Cantos³

et al. 2004

The Vestibular System

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Section: Genes That Affect Fluid Homeostasismentioning

confidence: 97%

Molecular Genetics of Vestibular Organ Development

Chang¹,

Cole²,

Cantos³

et al. 2004

The Vestibular System

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“…Further histological analysis of OHCs by electron microscopy excluded other changes at the cellular level such as apoptosis. Vacuoles are frequently seen as the first signs of (hair) cell death (Vetter et al, 1996). At 2 months of age, the numbers of outer hair cells containing vacuoles in heterozygous mice were especially high in the apical region of the cochleae, which is responsive to frequencies of approximately 4 kHz (Ou et al, 2000), whereas in the middle (responsive to 16 kHz) and basal regions (responsive to 32 kHz), these numbers remained low.…”

Section: Outer Hair Cells Are Affected By Both Histological and Physimentioning

confidence: 99%

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Looij

Burg²,

Giessen³

et al. 2005

Neurobiology of Disease

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Human HDR (hypoparathyroidism, deafness and renal dysplasia)-syndrome is caused by haploinsufficiency of zinc-finger transcription factor GATA3. The hearing loss due to GATA3 haploinsufficiency has been shown to be peripheral in origin, but it is unclear to what extent potential aberrations in the outer hair cells (OHCs) contribute to this disorder. To further elucidate the pathophysiological mechanism underlying the hearing defect in HDR-syndrome, we investigated the OHCs in heterozygous Gata3-knockout mice at both the functional and morphological level. While the signal-to-noise ratios of distortion product otoacoustic emissions (DPOAE) in wild type mice did not change significantly during the first half-year of live, those in the heterozygous Gata3 mice decreased dramatically. In addition, both light microscopic and transmission electron microscopic analyses showed that the number of OHCs containing vacuoles was increased in the mutants. Together, these findings indicate that outer hair cell malfunctioning plays a major role in the hearing loss in HDR-syndrome. D

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“…In contrast, others, such as stargazer (Khan et al 2004), het (Paffenholz et al 2004), isk (Vetter et al 1996), tlt and mlh (Hurle et al 2003), Pmca2 (Kozel et al 1998), shaker/waltzer (Sun 2001), and hscy (Longo-Guess et al 2005), have not been reported as having significant bony abnormalities. It is not known, however, if some of these animals may have relatively subtle changes in the anatomy of the temporal bone that have gone unnoticed.…”

Section: Introductionmentioning

confidence: 98%

Planar Relationships of the Semicircular Canals in Two Strains of Mice

Calabrese

Hullar

2006

JARO

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The mouse is increasingly important as a subject of vestibular research. Although many studies have focused on the vestibular responses of mice to angular rotation, the geometry of their semicircular canals has not been described. High-voltage X-ray computed tomography was used to measure the anatomy of the semicircular canals of two strains of mice, C57Bl/6J and CBA/CaJ. The horizontal plane of a stereotaxic coordinate system was defined by the midpoints of the external auditory meati and the point where the incisors emerge from the maxilla. The centroids of the lumens of the bony canals were calculated, and planes that describe the canals were fit using a least-squares regression analysis to the resulting points. Vectors normal to each regressed plane were used to represent the corresponding canal's axis of rotation, and angles of these vectors relative to skull landmarks as well as to each other were calculated. The horizontal canal of the mouse was found to be angled anteriorly upward 17.8-for CBA/CaJ and 32.6-for C57Bl/6J from the reference horizontal plane. Angles between ipsilateral canals deviated up to 12.3-from orthogonal, and angles between contralateral synergistic canals (left anterior-right posterior, right anterior-left posterior, and horizontal-horizontal) deviated from parallel by up to 14.8-. The orientations of the canals within the head as well as the orientations of the canals relative to each other were significantly different between the two strains, suggesting that care must be taken in the design and interpretation of developmental and physiologic studies involving different mouse strains.

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Inner Ear Defects Induced by Null Mutationof the isk Gene

Cited by 371 publications

References 65 publications

Molecular Genetics of Vestibular Organ Development

Molecular Genetics of Vestibular Organ Development

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Planar Relationships of the Semicircular Canals in Two Strains of Mice

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