| Gene Symbol | ent-gene-961a77ee |
| Primary Expression | High-level expression in neurons throughout the brain [@radde2006] |
| Location | transmembrane domain II of PS1 ( residue M146) |
| Effect | Subtle alteration of γ-secretase substrate specificity |
| Origin | One of the most common FAD PSEN1 mutations, first identified in families with early-onset AD |
| Aβ elevation | 3-5 fold increase in total Aβ production [@moechars1999] |
| Result | Shifts Aβ production toward the more aggregation-prone Aβ42 species |
| Inheritance | Autosomal dominant, early-onset familial AD [@borchelt1996] |
| Aβ shift | Increases Aβ42/Aβ40 ratio (~2-3 fold) |
| Pathology onset | Similar to PS1ΔE9, plaques detectable by 5-8 months |
| Co-integration | Both transgenes integrated on separate chromosomes |
| Promoter | Mouse prion protein (PrP) promoter drives neuronal expression |
| Background | C57BL/6J x C3H hybrid background |
| Onset | Plaques detectable by 6 months of age |
| Distribution | Cortex and hippocampus first, spreading to striatum later |
| Plaque types | Both diffuse and neuritic (cored) plaques |
| KG Connections | 21 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!