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Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome.

Publication ,  Journal Article
Rivas, A; Francis, HW
Published in: Otol Neurotol
May 2005

HYPOTHESIS: Mice lacking functional KCNQ1 (previously known as KvLQT1) channels exhibit functional and structural abnormalities that indicate disturbed production of endolymph. BACKGROUND: Congenital deafness associated with cardiac conduction abnormalities (Jervell and Lange-Nielsen syndrome) is associated with dysfunctional KCNQ1/KCNE1 channel complex. This potassium channel plays a critical role in the production and homeostasis of endolymph by the stria vascularis. A preliminary report documented severe abnormalities of the scala media and vestibular compartments of a single mouse lacking functional KCNQ1 alleles. METHODS: Hearing thresholds were measured in three Kcnq1 knockout mice, two heterozygous mice, and one wild-type mouse by auditory brainstem response recordings using clicks, after which the temporal bones were removed. After fixation and dehydration, the ears were embedded in araldite, sectioned at 20-microm thickness, stained with toluidine blue on glass slides, and examined with the light microscope. RESULTS: Kcnq1 knockout mice were deaf and demonstrated circling behavior. They exhibited a marked atrophy of the stria vascularis, contraction of the endolymphatic compartments, and collapse and adhesion of surrounding membranes. There was a complete degeneration of the organ of Corti and an associated degeneration of the spiral ganglion. CONCLUSION: Kcnq1 knockout mice exhibit histopathologic findings that are comparable to those reported in human temporal bone cases of Jervell and Lange-Nielsen syndrome, and provide further evidence that KCNQ1 channel dysfunction can lead to congenital deafness in this syndrome.

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Published In

Otol Neurotol

DOI

ISSN

1531-7129

Publication Date

May 2005

Volume

26

Issue

3

Start / End Page

415 / 424

Location

United States

Related Subject Headings

  • Vestibule, Labyrinth
  • Potassium Channels, Voltage-Gated
  • Otorhinolaryngology
  • Mice, Knockout
  • Mice
  • KCNQ1 Potassium Channel
  • KCNQ Potassium Channels
  • Jervell-Lange Nielsen Syndrome
  • Humans
  • Ear, Inner
 

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Rivas, A., & Francis, H. W. (2005). Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome. Otol Neurotol, 26(3), 415–424. https://doi.org/10.1097/01.mao.0000169764.00798.84
Rivas, Alejandro, and Howard W. Francis. “Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome.Otol Neurotol 26, no. 3 (May 2005): 415–24. https://doi.org/10.1097/01.mao.0000169764.00798.84.
Rivas, Alejandro, and Howard W. Francis. “Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome.Otol Neurotol, vol. 26, no. 3, May 2005, pp. 415–24. Pubmed, doi:10.1097/01.mao.0000169764.00798.84.

Published In

Otol Neurotol

DOI

ISSN

1531-7129

Publication Date

May 2005

Volume

26

Issue

3

Start / End Page

415 / 424

Location

United States

Related Subject Headings

  • Vestibule, Labyrinth
  • Potassium Channels, Voltage-Gated
  • Otorhinolaryngology
  • Mice, Knockout
  • Mice
  • KCNQ1 Potassium Channel
  • KCNQ Potassium Channels
  • Jervell-Lange Nielsen Syndrome
  • Humans
  • Ear, Inner