2000
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Jones J, Huang J, Mermall V, Hamilton B, Mooseker M, Escayg A, Copeland N, Jenkins N, Meisler M. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics 2000, 9: 821-828. PMID: 10749990, DOI: 10.1093/hmg/9.5.821.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBrainDNA, ComplementaryExonsFungal ProteinsGene DosageGenes, RecessiveGTP-Binding Protein beta SubunitsIntronsMiceMice, Inbred C57BLMice, Mutant StrainsMicroscopy, ElectronMolecular Sequence DataMonomeric GTP-Binding ProteinsMyosin Type IMyosinsPurkinje CellsRNA, MessengerSaccharomyces cerevisiae ProteinsConceptsN-terminal 83 amino acidsAmino acidsWild-type proteinGlobular tail domainNon-homologous recombinationSmooth endoplasmic reticulum vesiclesNovel hybrid geneDominant-negative mechanismExon shufflingChromosomal arrangementsMammalian mutationsNew genesNovel genesUnrelated genesEndoplasmic reticulum vesiclesTail domainHybrid geneMutational mechanismsTerminal exonIntracellular transportGenetic studiesGenesExonsProteinGNB5
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
1976
Studies of muscle proteins in embryonic myocardial cells of cardiac lethal mutant mexican axolotls (Ambystoma mexicanum) by use of heavy meromyosin binding and sodium dodecyl sulfate polyacrylamide gel electrophoresis.
Lemanski L, Mooseker M, Peachey L, Iyengar M. Studies of muscle proteins in embryonic myocardial cells of cardiac lethal mutant mexican axolotls (Ambystoma mexicanum) by use of heavy meromyosin binding and sodium dodecyl sulfate polyacrylamide gel electrophoresis. Journal Of Cell Biology 1976, 68: 375-388. PMID: 1107335, PMCID: PMC2109630, DOI: 10.1083/jcb.68.2.375.Peer-Reviewed Original ResearchConceptsMutant heartsRecessive mutant gene cMutant siblingsGene CHeart muscle differentiationMutant heart cellsHeavy meromyosin treatmentDalton bandMuscle proteinsGel electrophoresisSingle gene mutationsMutant embryonic heartsDifferent muscle proteinsEmbryonic myocardial cellsEarly developmental stagesSkeletal muscleSodium dodecyl sulfate gel electrophoresisDodecyl sulfate gel electrophoresisEmbryonic heart functionSodium dodecyl sulfate-polyacrylamide gel electrophoresisDodecyl sulfate-polyacrylamide gel electrophoresisSulfate-polyacrylamide gel electrophoresisHeavy meromyosin bindingMuscle differentiationMexican axolotl