Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/123436
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Type: Journal article
Title: Two ENU-induced alleles of Atp2b2 cause deafness in mice
Author: Carpinelli, M.
Manning, M.
Kile, B.
Rachel, A.
Citation: PLoS ONE, 2013; 8(6):e67479-1-e67479-8
Publisher: Public Library of Science
Issue Date: 2013
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
Marina R. Carpinelli, Michael G. Manning, Benjamin T. Kile, Rachel A. Burt
Abstract: Over 120 loci are known to cause inherited hearing loss in humans. The deafness gene has been identified for only half of these loci. With the aim of identifying some of the remaining deafness genes, we performed an ethylnitrosourea mutagenesis screen for deaf mice. We isolated two mutants with semi-dominant hearing loss, Deaf11 and Deaf13. Both contained causative mutations in Atp2b2, which encodes the plasma membrane calcium ATPase 2. The Atp2b2 (Deaf11) mutation leads to a p. I1023S substitution in the tenth transmembrane domain. The Atp2b2 (Deaf13) mutation leads to a p. R561S substitution in the catalytic core. Mice homozygous for these mutations display profound hearing loss. Heterozygotes display mild to moderate, progressive hearing loss.
Keywords: Genetic linkage
Rights: © 2013 Carpinelli et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 1000001822
DOI: 10.1371/journal.pone.0067479
Appears in Collections:Medicine publications

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