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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.

Two ENU-Induced Alleles of Atp2b2 Cause Deafness in Mice