Animal Use AlternativesRetinal DegenerationPhotoreceptor Cells, VertebrateRetinitis PigmentosaDisease Models, Animalcis-trans-IsomerasesRetinal Pigment EpitheliumRetinaModels, AnimalRhodopsinEye ProteinsRetinal Rod Photoreceptor CellsElectroretinographyPhotoreceptor CellsMutationPoint MutationMutation, MissenseGenetic Diseases, InbornDiseaseHuntington DiseaseMolecular Sequence DataSpinal DiseasesDiffuse Cerebral Sclerosis of SchilderHepatolenticular DegenerationFrameshift MutationAmino Acid SequenceMyopathy, Central CorePedigreeBase SequenceHeterozygoteTay-Sachs DiseaseAlzheimer DiseaseGerm-Line MutationProtein Structure, TertiaryPhenotypeNeurodegenerative DiseasesGaucher DiseaseCell LineAmino Acid SubstitutionAllelesExonsHexosaminidase AMice, TransgenicPresenilin-1Jewsvon Willebrand DiseasesDNA Mutational AnalysisModels, GeneticGenetic TestingSpinal OsteophytosisMice, Inbred C57BLAspartylglucosylaminaseModels, MolecularGlucosylceramidaseNerve Tissue ProteinsLumbar VertebraeProtein BindingHeterozygote DetectionIntervertebral Disc DegenerationGenotypeMutagenesis, Site-DirectedPolymerase Chain ReactionMutant ProteinsChromosome MappingGenetic Predisposition to DiseaseAmyloid beta-Protein PrecursorMutation RateGyrate AtrophySpondylosisMachado-Joseph DiseaseCells, CulturedOxidative StressTransfectionDNA, MitochondrialProteinsProtein FoldingAgingBinding SitesCation Transport ProteinsSignal TransductionDNAIntervertebral Disc DisplacementInduced Pluripotent Stem CellsModels, BiologicalAdenosine TriphosphatasesCell DifferentiationMice, KnockoutRecombinant ProteinsProtein Structure, SecondaryInjections, IntraocularMitochondriaDNA PrimersPolymorphism, Single NucleotideSpinal FusionComputational BiologyRyanodine Receptor Calcium Release ChannelLinkage DisequilibriumGene Frequencyvon Willebrand FactorPolymorphism, Single-Stranded Conformational