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Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice.

Publication ,  Journal Article
Lee, MP; Ravenel, JD; Hu, RJ; Lustig, LR; Tomaselli, G; Berger, RD; Brandenburg, SA; Litzi, TJ; Bunton, TE; Limb, C; Francis, H; Gorelikow, M ...
Published in: J Clin Invest
December 2000

The KvLQT1 gene encodes a voltage-gated potassium channel. Mutations in KvLQT1 underlie the dominantly transmitted Ward-Romano long QT syndrome, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndrome, which causes both cardiac arrhythmia and congenital deafness. KvLQT1 is also disrupted by balanced germline chromosomal rearrangements in patients with Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth and cancer. Because of the diverse human disorders and organ systems affected by this gene, we developed an animal model by inactivating the murine Kvlqt1. No electrocardiographic abnormalities were observed. However, homozygous mice exhibited complete deafness, as well as circular movement and repetitive falling, suggesting imbalance. Histochemical study revealed severe anatomic disruption of the cochlear and vestibular end organs, suggesting that Kvlqt1 is essential for normal development of the inner ear. Surprisingly, homozygous mice also displayed threefold enlargement by weight of the stomach resulting from mucous neck cell hyperplasia. Finally, there were no features of BWS, suggesting that Kvlqt1 is not responsible for BWS.

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Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 2000

Volume

106

Issue

12

Start / End Page

1447 / 1455

Location

United States

Related Subject Headings

  • Stomach
  • Potassium Channels, Voltage-Gated
  • Potassium Channels
  • Phenotype
  • Organ Size
  • Mutation
  • Mice, Knockout
  • Mice
  • Male
  • Long QT Syndrome
 

Citation

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Lee, M. P., Ravenel, J. D., Hu, R. J., Lustig, L. R., Tomaselli, G., Berger, R. D., … Feinberg, A. P. (2000). Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest, 106(12), 1447–1455. https://doi.org/10.1172/JCI10897
Lee, M. P., J. D. Ravenel, R. J. Hu, L. R. Lustig, G. Tomaselli, R. D. Berger, S. A. Brandenburg, et al. “Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice.J Clin Invest 106, no. 12 (December 2000): 1447–55. https://doi.org/10.1172/JCI10897.
Lee MP, Ravenel JD, Hu RJ, Lustig LR, Tomaselli G, Berger RD, et al. Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest. 2000 Dec;106(12):1447–55.
Lee, M. P., et al. “Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice.J Clin Invest, vol. 106, no. 12, Dec. 2000, pp. 1447–55. Pubmed, doi:10.1172/JCI10897.
Lee MP, Ravenel JD, Hu RJ, Lustig LR, Tomaselli G, Berger RD, Brandenburg SA, Litzi TJ, Bunton TE, Limb C, Francis H, Gorelikow M, Gu H, Washington K, Argani P, Goldenring JR, Coffey RJ, Feinberg AP. Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest. 2000 Dec;106(12):1447–1455.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 2000

Volume

106

Issue

12

Start / End Page

1447 / 1455

Location

United States

Related Subject Headings

  • Stomach
  • Potassium Channels, Voltage-Gated
  • Potassium Channels
  • Phenotype
  • Organ Size
  • Mutation
  • Mice, Knockout
  • Mice
  • Male
  • Long QT Syndrome