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Trem2em1Adiuj
Endonuclease-mediated Allele Detail
Summary
Symbol: Trem2em1Adiuj
Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 1, MODEL-AD Center
MGI ID: MGI:5770794
Synonyms: Jax R47H ki, Trem2 R47H KI
Gene: Trem2  Location: Chr17:48653429-48659304 bp, + strand  Genetic Position: Chr17, 23.99 cM, cytoband C
Alliance: Trem2em1Adiuj page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsThe allele was generated by injecting cas9 nuclease and a single guide RNA designed to introduce a R47H point mutation with two silent mutations (lysine AAG>AAA and alanine GCC>GCA) into the gene. (J:264639)
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 34 strains available      Cell Lines: 0 lines available
Carrying any Trem2 Mutation:  65 strains or lines available
References
Original:  J:264639 Xiang X, et al., The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans. Mol Neurodegener. 2018 Sep 6;13(1):49
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory