Fibrillin-1 mutations for modeling neonatal progeroid syndrome with congenital lipodystrophy
US10548302B2 · kind B2 · utility
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Key dates
| Filing date | Jul 28, 2017 |
| Grant date | Feb 4, 2020 |
| Priority date | — |
| Expiry date | Aug 17, 2037 |
Classification
- Technology area (CPC A)Human Necessities
- CPC primaryA01K2267/0306
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
Abstract
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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