Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

@article{Street1998MutationsIA,
  title={Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice},
  author={Valerie A. Street and Jennifer W. McKee-Johnson and Rosalia C. Fonseca and Bruce L. Tempel and Konrad Noben-Trauth},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={390-394}
}
Hearing loss is the most common sensory deficit in humans. Because the auditory systems of mice and humans are conserved, studies on mouse models have predicted several human deafness genes and identified new genes involved in hearing. The deafwaddler (dfw) mouse mutant is deaf and displays vestibular/motor imbalance. Here we report that the gene encoding a plasma membrane Ca2+-ATPase type 2 pump (Atp2b2 , also known as Pmca2) is mutated in dfw. An A→G nucleotide transition in dfw DNA causes a… CONTINUE READING
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Physiological and anatomical status of the deafwaddler ( dfw ) mutant mouse cochlea

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