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

Summary

• Symbol: Trem2^{em2(TREM2*R47H)Aduci}
• Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 2, Frank LaFerla
• MGI ID: MGI:7327122
• Synonyms: hTREM2-R47H_KI
• Gene: Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
• Alliance: Trem2^{em2(TREM2*R47H)Aduci} page

Mutation origin

• Strain of Origin: C57BL/6J-Trem2^{tm2(TREM2*R47H)Aduci}

Mutation description

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

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TREM2 (54209)

  Trem2

  (MGI:1913150)

  CGC to CAC mutation at position 47

• Mutation details: The targeting vector is designed to replace mouse genomic DNA between the initiator translation codon in exon 1 and the translation termination codon in exon 5 with the corresponding mutant human genomic DNA sequence flanked by loxP sites. An FRT-flanked neomycin resistance cassette was inserted in the 3' UTR. The human TREM2 sequence contained a CGC to CAC mutation at position 47 resulting in an arginine to histidine mutation (R47H) orthologous to the location of human SNP rs75932628. Human SNP rs75932628 has been found to be one of the strongest genetic risk factors for late-onset Alzheimer's disease (AD). To ensure normal levels of TREM2*R47H transcripts, ssODN repair template, tracrRNA and CAS9 nuclease were introduced into the cytoplasm of Trem2^{tm1(TREM2*R27H)Aduci}-derived zygotes with well recognized pronuclei to remove both loxP sites and the remaining FRT site. This also served to restore the mouse 5'; UTR and 3'; UTR sequences. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Trem2 Mutation: 65 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)