Trem2^{em2(TREM2*R47H)Lgn}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trem2^{em2(TREM2*R47H)Lgn}
• Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 2, Li Gan
• MGI ID: MGI:6887975
• Synonyms: hTREM^R47H
• Gene: Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
• Alliance: Trem2^{em2(TREM2*R47H)Lgn} page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Trem2^{em2(TREM2*R47H)Lgn} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TREM2 (54209)

  Trem2

  (MGI:1913150)

  R47H amino acid substitution

• Mutation details: CRISPR-targeting knock-in the human cDNA with the amino acid substitution of arginine with histidine at position 47 (p.R47H). (J:321548)

Expression

In Mice Carrying this Mutation:

2 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Trem2 Mutation: 69 strains or lines available

References

• Original: J:321548 Sayed FA, et al., AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation. Sci Transl Med. 2021 Dec;13(622):eabe3947
• All: 2 reference(s)