Sorl1.A528T_APOE4_Trem2.R47H

syn22219801

Created By Mette Peters Mette

url: https://www.jax.org/strain/031940
grant: U54AG054345
program: MODEL-AD
species: Mouse
summary: CRISPR/Cas9 was used to engineer a point mutation (GCCACC) into the mouse Sorl1 gene to create the A528T amino acid substitution. This models a common, highly conserved missense variant (rs2298813) that is significantly associated with late-onset AD. Overexpression of the missense variant rs2298813 leads to elevated Ab42 secretion. This is expressed on a sensitized model also expressing a humanized APOE4 knock-in and a CRISPR/cas9-generated R47H point mutation in the mouse Trem2 gene.
AlzForum: [Link](https://www.alzforum.org/research-models/sorl1a528tapoe4trem2r47h)
toolType: Mouse Model
modelType: Late Onset Alzheimer's disease
contributor: Mike Sasner
strainDetails: [View](https://www.jax.org/strain/031940)
targetedGenes: SORL1 APOE TREM2
backgroundStrain: C57BL/6J
alzforumInformation: [View](https://www.alzforum.org/research-models/sorl1a528tapoe4trem2r47h)

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