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Gene targeting in zebrafish: building models to assay disease genes

Gene targeting in zebrafish: building models to assay disease genes
斑马鱼的基因打靶：建立模型来检测疾病基因
批准号：
8684468
负责人：
DAVID J. GRUNWALD
金额：
$22.35万
依托单位：
UNIVERSITY OF UTAH
依托单位国家：
美国
项目类别：
财政年份：
2014
资助国家：
美国
项目状态：
已结题
起止时间：
2014-04-01 至 2016-03-31
来源：
https://reporter.nih.gov/project-details/8684468
关键词：
AddressAllelesBehaviorBenignBiological AssayBiological ModelsCardiacCellsDevelopmentDiagnosisDiseaseEmbryoEmbryonic DevelopmentEnvironmentEvaluationExcisionFishesGene TargetingGenesGenetic Predisposition to DiseaseGenetic RecombinationGoalsHealthcareHumanHuman ActivitiesHuman GenomeIon Channel ProteinKnock-in MouseKnock-outLaboratoriesLeadLong QT SyndromeMeasuresMediatingMethodsModelingPathogenicityPatientsPharmaceutical PreparationsPhysiologicalPhysiologyProcessProteinsRelative (related person)ReporterResearch PersonnelResearch SubjectsRiskSignal TransductionSiteStratificationSystemTamoxifenTechnologyTestingUniversitiesUtahValidationVariantZebrafishbody systemdesigngenome sequencinghomologous recombinationhuman diseaseinterestloss of functionnew technologynovelpromoterpublic health relevancerapid techniquerecombinasescreeningtooltranscription termination

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英文摘要
DESCRIPTION (provided by applicant): The purpose of this proposal is to advance use of the zebrafish as an applied tool for helping to diagnose and develop treatments for human disease. This proposal aims to develop and test a new method for using the zebrafish to measure the relative activity and potential pathogenicity of allelic forms of human genes. Methods will be developed that allow the removal of specific zebrafish genes on demand and the expression of human genes in the zebrafish. As a test case, this proposal uses the new methods to determine if the zebrafish can be used to distinguish between normal and disease-causing forms of the KCNH2 gene, a gene that when defective leads to Long QT Syndrome.
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