Trem2^em2Bwef
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trem2^em2Bwef
• Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 2, Benedikt Wefers
• MGI ID: MGI:6197715
• Synonyms: R47H ki, Trem2(R47H)
• Gene: Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
• Alliance: Trem2^em2Bwef page

Mutation origin

• Strain of Origin: (C57B/6J x DBA/2J)F1 x FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: The allele was generated by injecting cas9 nuclease and a single guide RNA designed to introduce an arginine to histidine (R27H) point mutation with three silent mutations GA>TC to create a restriction enzyme site for genotyping and G>A to block the protospacer-adjacent motif to allow higher editing efficiency. Western blot of microglia and bone marrow derived macrophages confirms a reduction in protein levels. (J:264639)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 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: 1 reference(s)