The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
Avraham K, Hasson T, Steel K, Kingsley D, Russell L, Mooseker M, Copeland N, Jenkins N. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genetics 1995, 11: 369-375. PMID: 7493015, DOI: 10.1038/ng1295-369.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceChromosome InversionCloning, MolecularDeafnessDNA Mutational AnalysisGenes, RecessiveHair Cells, Auditory, InnerHumansMiceMice, Inbred C57BLMice, Mutant StrainsMolecular Sequence DataMyosin Heavy ChainsOrgan of CortiRestriction MappingRNA, MessengerSequence DeletionConceptsMyosin VIUnconventional myosin heavy chainPositional cloning approachInner ear hair cellsHuman deafness disordersExcellent model systemEar hair cellsSensory hair cellsHair cellsDeafness disordersCloning approachUnconventional myosinDeafness mutationsDeafness mutantsDeafness genesMyosin heavy chainGenesGenetic deafnessModel systemHeavy chainStructural integrityWaltzerInner earCellsMutantsExpression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
Hasson T, Heintzelman M, Santos-Sacchi J, Corey D, Mooseker M. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proceedings Of The National Academy Of Sciences Of The United States Of America 1995, 92: 9815-9819. PMID: 7568224, PMCID: PMC40893, DOI: 10.1073/pnas.92.21.9815.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAmino Acid SequenceAnimalsAntibody SpecificityBlindnessCochleaDeafnessDyneinsFluorescent Antibody TechniqueGuinea PigsHearing Loss, SensorineuralHumansImmunoblottingMolecular Sequence DataMyosin VIIaMyosinsRatsRetinaRetinitis PigmentosaSequence Homology, Amino AcidSwineSyndromeTissue DistributionConceptsHair cellsMyosin VIIa expressionEpithelial cellsMyosin VIIaCochlear hair cellsMyosin VIIa functionOuter hair cellsUsher syndrome type 1BMyosin VIIA geneVestibular dysfunctionCell-specific localizationCongenital deafnessRetinitis pigmentosaUsher syndromeType 1bType 1B.Normal functionApical stereociliaVIIaDeafnessDisease phenotypeCochleaInherited diseaseRetinaShaker-1