Two ENU-induced alleles of Atp2b2 cause deafness in mice

Marina Carpinelli, Michael G Manning, Benjamin Kile, Rachel A Burt

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

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 Atp2b2Deaf11 mutation leads to a p. I1023S substitution in the tenth transmembrane domain. The Atp2b2Deaf13 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.
Original languageEnglish
Article numbere67479
Number of pages8
JournalPLoS ONE
Volume8
Issue number6
DOIs
Publication statusPublished - Jun 2013
Externally publishedYes

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