Two ENU-Induced Alleles of Atp2b2 Cause Deafness in Mice
- Author(s)
- Carpinelli, MR; Manning, MG; Kile, BT; Burt, RA;
- Details
- Publication Year 2013-06-24,Volume 8,Issue #6,Page e0067479
- Journal Title
- PLOS ONE
- Publication Type
- Journal Article
- 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.
- Publisher
- PUBLIC LIBRARY SCIENCE
- Keywords
- deafness ; amino acid ; mice ; genetic loci ; amino acid sequence
- Research Division(s)
- Cancer And Haematology
- Link To PubMed Central Version
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691321/
- Publisher's Version
- https://doi.org/10.1371/journal.pone.0067479
- Open Access at Publisher's Site
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0067479- Terms of Use/Rights Notice
- Copyright: © 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.
Creation Date: 2013-06-24 12:00:00