Article
Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.
Disease models & mechanisms - 1 Mar 2013
Lorente-Cánovas Beatriz, Ingham Neil, Norgett Elizabeth E, Golder Zoe J, Karet Frankl Fiona E, Steel Karen P
Abstract excerpt
Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment. A first Atp6v0a4 knockout mouse model that recapitulates the loss of H(+)-ATPase function seen in humans has been generated and recently reported (Norgett et al., 2012). Here, we present the first detailed analysis of the structure and function of the auditory...
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