Mthfr.C677T_APOE4_Trem2.R47H

syn22219788

Created By Mette Peters Mette

url: https://www.jax.org/strain/030922
data: Jax.IU.Pitt_PrimaryScreen Jax.IU.Pitt_StrainValidation
grant: U54AG054345
program: MODEL-AD
species: Mouse
summary: CRISPR/Cas9 was used to engineer a point mutation in the Mthfr gene (GCC->GTC) that models the human C677T polymorphism and causes the A262V amino acid substitution. This models the late-onset AD risk variant SNP rs1801133. This Mthfr variant 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/mthfrc677tapoe4trem2r47h)
toolType: Mouse Model
modelType: Late Onset Alzheimer's disease
contributor: Mike Sasner
availableData: MthfrC677TSNP
strainDetails: [View](https://www.jax.org/strain/030922)
targetedGenes: MTHFR APOE TREM2
backgroundStrain: C57BL/6J
alzforumInformation: [View](https://www.alzforum.org/research-models/mthfrc677tapoe4trem2r47h)

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