Paradigms and paradoxes: mouse (and human) models of genetic deafness.
Mouse models have proved valuable tools in the analysis of human genetic disorders. The identification of the genes mutated in classical mouse mutants and the analysis of the phenotype of mutants following targeted gene disruption have provided some clarification of the development and functioning of the inner ear. A number of these genes also play a role in human deafness. Analysis of mutations in both human and mouse deafness genes has identified a number of distinct phenomena that contribute to the observed phenotype.
Hughes
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MRC Institute of Hearing Research, University of Nottingham, UK. davidh@ihr.mrc.ac.uk
D000818:Animals; D030161:Avian Proteins; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D003638:Deafness / Q000235:genetics*; D004195:Disease Models, Animal; D007758:Ear, Inner / Q000254:growth & development / Q000502:physiology; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D051258:MafB Transcription Factor; D051379:Mice; D018345:Mice, Knockout; D008817:Mice, Mutant Strains; D008957:Models, Genetic; D009154:Mutation; D009218:Myosins / Q000235:genetics / Q000502:physiology; D015513:Oncogene Proteins; D010641:Phenotype; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
D030161:Avian Proteins; D004268:DNA-Binding Proteins; D016326:Extracellular Matrix Proteins; C490407:MAFB protein, human; D051258:MafB Transcription Factor; C490406:Mafb protein, mouse; D015513:Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; D014157:Transcription Factors; C496365:FGFR3 protein, human; C496366:Fgfr3 protein, mouse; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D009218:Myosins