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Representative FAD-linked mutations in PSEN1 used in model mice.
| Mutation | Phenotype | Mouse model |
|---|---|---|
| M146L | Increased Aβ42/Aβ40 ratio | 5xFAD |
| M146V | Increased Aβ42/Aβ40 ratio | 3xTg |
| L286V | Increased Aβ42/Aβ40 ratio | 5xFAD |
| ΔE9 | Increased Aβ42/Aβ40 ratio | APPswe/PSEN1dE9 |
