url: https://www.jax.org/strain/027918 data: Jax.IU.Pitt_PrimaryScreen Jax.IU.Pitt_Trem2.R47H Jax.IU.Pitt_APOE4.Trem2.R47H grant: U54AG054345 program: MODEL-AD species: Mouse summary: This CRISPR/Cas9-generated KI mutant of the Trem2 gene introduces a R47H point and two silent mutations. The TREM2 R47H is a missense mutation in exon 2 that is one of the strongest genetic risk factors for LOAD. Expression of both transcripts of Trem2 is decreased by ~50% in brains of mutant homozygous mice with R47H allele. Mice expressing Trem2 R47H mutation also express a novel splice variant with a deletion of 119bp at the 5’ end of exon 2, due to a cryptic splice acceptor site in exon 2. AlzForum: [Link](https://www.alzforum.org/research-models/trem2-r47h-ki-jax) toolType: Mouse Model modelType: Late Onset Alzheimer's disease contributor: Mike Sasner availableData: Trem2R47H strainDetails: [View](https://www.jax.org/strain/027918) targetedGenes: TREM2 backgroundStrain: C57BL/6J alzforumInformation: [View](https://www.alzforum.org/research-models/trem2-r47h-ki-jax)