Article
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
Human molecular genetics - 1 Oct 2017
Tian Cong, Gagnon Leona H, Longo-Guess Chantal, Korstanje Ron, Sheehan Susan M, Ohlemiller Kevin K, Schrader Angela D, Lett Jaclynn M, Johnson Kenneth R
Abstract excerpt
Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype...
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