The anomalies oe the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse

Deol, M. S.

doi:10.1007/bf02985081

Cited by 103 publications

(57 citation statements)

References 10 publications

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“…Mice that are homozygous for the jerker mutation (jerker mice) exhibit peculiar head-jerking movements and, as is true for many mouse deafness mutations, rapid circling. Early histological analyses of jerker mice revealed a loss of hair cells in the cochlea and a defect in the tectorial membrane [29], the flap of fibrillar extracellular matrix positioned above cochlear hair cells. Assessments of hearing physiology showed that jerker mice were totally deaf from the first time point such measurements could be carried out [30,31].…”

Section: Jerker Deafness Mutation In the Mouse Espin Genementioning

confidence: 99%

Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli

Sekerková

Zheng

Loomis

et al. 2006

Cell. Mol. Life Sci.

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The espins are novel actin-bundling proteins that are produced in multiple isoforms from a single gene. They are present at high concentration in the parallel actin bundle of hair cell stereocilia and are the target of deafness mutations in mice and humans. Espins are also enriched in the microvilli of taste receptor cells, solitary chemoreceptor cells, vomeronasal sensory neurons and Merkel cells, suggesting that espins play important roles in the microvillar projections of vertebrate sensory cells. Espins are potent actin-bundling proteins that are not inhibited by Ca 2+ . In cells, they efficiently elongate parallel actin bundles and, thereby, help determine the steady-state length of microvilli and stereocilia. Espins bind actin monomer via their WH2 domain and can assemble actin bundles in cells. Certain espin isoforms can also bind phosphatidylinositol 4,5-bisphosphate, profilins or SH3 proteins. These biological activities distinguish espins from other actin-bundling proteins and may make them well-suited to sensory cells. KeywordsEspin; actin; hair cell; stereocilia; microvilli; sensory; deafness; taste The stereocilia and microvilli of vertebrate sensory cells and their actinbundling proteinsMany classes of vertebrate sensory cells detect chemical or mechanical stimuli through microvilli or their derivatives, such as stereocilia. These relatively long-lived, fingerlike specializations of the plasma membrane are built around a common cytoskeletal element -the parallel actin bundle (PAB) [1]. PABs consist of tightly packed collections of actin filaments cross-linked by actin-bundling proteins. The filaments are aligned along their longitudinal axis and display a uniform polarity with respect to their preferred ends for actin monomer addition, which in microvilli and stereocilia is positioned at the distal tip. The PAB displays hallmarks of a supramolecular scaffold that determines the placement, dimensions, flexibility and signaling properties of microvilli and stereocilia. Although filopodia also contain a PAB at their core and are believed to sense the local environment, they are considerably more dynamic and differ significantly from microvilli and stereocilia in their molecular composition and biogenesis [2].

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Section: Jerker Deafness Mutation In the Mouse Espin Genementioning

confidence: 99%

Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli

Sekerková

Zheng

Loomis

et al. 2006

Cell. Mol. Life Sci.

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“…Va J homozygotes and heterozygotes show normal vestibular behavior, are less variegated, but are both deaf. Light-microscopic, electrophysiological, and ultrastructural studies of the inner ear of Va and Va J identified defects in organ of Corti and stria vascularis (Cable and Steel 1998;Deol 1954). Correlating with the coat color phenotype, cochlea physiology and morphology are more pronounced in homozygotes.…”

Section: Introductionmentioning

confidence: 97%

Genetic Analyses of the Mouse Deafness Mutations Varitint-Waddler (Va) and Jerker (Espnje)

Kim

Jackson

Noben-Trauth

2003

JARO - Journal of the Association for Research in Otolaryngolog

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Genetic studies on spontaneous mouse mutants with hearing defects have provided important insights into the function of genes expressed in inner ear hair cells. Here we report on our genetic analyses of the deaf mutants varitint-waddler (Va) and jerker (Espn je ). A high-resolution genetic map localizes Va J to a 0.14 ± 0.08 cM region between D3Mit85 and D3Mit259 on distal chromosome 3. By comparative mapping, the human ortholog resides at 1p22.3 between markers D1S3449 and D1S2252. To study the effect of different genetic backgrounds on the hearing phenotype, Espn je and Va J were crossed to various inbred strains. Auditory-evoked brainstem response tests on F2 progeny demonstrate that expression, inheritance, and penetrance of the hearing phenotype are solely controlled by the mutant allele. To test for a genetic interaction between Espn je and Cdh23 v , auditory function was analyzed in double heterozygotes; no significant increases of thresholds of sound pressure levels were observed. The results establish the framework for cloning the Va gene and provide valuable insights into the genetics of deafness mutations in the mouse.

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“…The mouse has a long history as a genetic model for hearing and balance dysfunction (e.g., Yerkes, 1907;Lord and Gates, 1929;Lyon, 1953;Deol, 1954; see also Ruben, 1991;Steel, 1995;Steel and Brown, 1994;Lyon et al, 1996;Petit et al, 2001;Ahituv and Avraham, 2002). Indeed, many mouse strains serve as animal models for human hereditary hearing impairment (e.g., Hereditary Hearing Impairment in Mice website at http://www.jax.org/research/hhim/, The Sanger Institute: Deaf Mouse Mutants website at http://www.sanger.ac.uk/PostGenomics/mousemutants/deaf/).…”

Section: Introductionmentioning

confidence: 99%

A comparison of vestibular and auditory phenotypes in inbred mouse strains

Jones

Johnson

et al. 2006

Brain Research

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The purposes of this research were to quantify gravity receptor function in inbred mouse strains and compare vestibular and auditory function for strain-and age-matched animals. Vestibular evoked potentials (VsEPs) were collected for 19 inbred strains at ages from 35 to 389 days old. On average, C57BL/6J (35 to 190 days), BALB/cByJ, C3H/HeSnJ, CBA/J, and young LP/J mice had VsEP thresholds comparable to normal. Elevated VsEP thresholds were found for elderly C57BL/ 6J, NOD.NONH2 kb , BUB/BnJ, A/J, DBA/2J, NOD/LtJ, A/WySnJ, MRL/MpJ, A/HeJ, CAST/Ei, SJL/J, elderly LP/J, and CE/J. These results suggest that otolithic function varies among inbred strains and several strains displayed gravity receptor deficits by 90 days old. Auditory brainstem response (ABR) thresholds were compared to VsEP thresholds for 14 age-matched strains. C57BL/6J mice (up to 190 days) showed normal VsEPs with normal to mildly elevated ABR thresholds. Four strains (BUB/BnJ, NOD/LtJ, A/J, elderly LP/J) had significant hearing loss and elevated VsEP thresholds. Four strains (DBA/2J, A/WySnJ, NOD. NONH2 kb , A/HeJ) had elevated VsEP thresholds (including absent VsEPs) with mild to moderate elevations in ABR thresholds. Three strains (MRL/MpJ, Ce/J, SJL/J) had significant vestibular loss with no concomitant hearing loss. These results suggest that functional change in one sensory system does not obligate change in the other. We hypothesize that genes responsible for early onset hearing loss may affect otolithic function, yet the time course of functional change may vary. In addition, some genetic mutations may produce primarily gravity receptor deficits. Potential genes responsible for selective gravity receptor impairment demonstrated herein remain to be identified.

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The anomalies oe the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse

Cited by 103 publications

References 10 publications

Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli

Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli

Genetic Analyses of the Mouse Deafness Mutations Varitint-Waddler (Va) and Jerker (Espnje)

A comparison of vestibular and auditory phenotypes in inbred mouse strains

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