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Mice comprising mutations resulting in expression of c-truncated fibrillin-1
Mice comprising mutations resulting in expression of c-truncated fibrillin-1
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机译:包含突变的小鼠导致c-截短的原纤维蛋白1的表达
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摘要
Provided are non-human animals comprising a mutation in the Fbn1 gene to model neonatal progeroid syndrome with congenital lipodystrophy (NPSCL). Also provided are methods of making such non-human animal models. The non-human animal models can be used for screening compounds for activity in inhibiting or reducing NPSCL or ameliorating NPSCL-like symptoms or screening compounds for activity potentially harmful in promoting or exacerbating NPSCL as well as to provide insights in to the mechanism of NPSCL and potentially new therapeutic and diagnostic targets.
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