1998
Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations
Huang J, Mermall V, Strobel M, Russell L, Mooseker M, Copeland N, Jenkins N. Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations. Genetics 1998, 148: 1963-1972. PMID: 9560409, PMCID: PMC1460104, DOI: 10.1093/genetics/148.4.1963.Peer-Reviewed Original ResearchConceptsMyosin VaMolecular genetic dissectionMammalian myosinGenetic dissectionProper foldingTail mutationsAlternative splicingColor locusDilute allelesSequencing approachSpecific functionsMutationsTail functionRegion mutationsFirst extensive collectionRT-PCRExtensive collectionSplicingLociTailFoldingIsoformsAllelesCargoSequence
1995
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 earCellsMutants