Species: Mouse
Genes: TREM2
Mutations: TREM2 R47H
Modification: TREM2: Knock-In
Disease Relevance: Alzheimer's Disease
Strain Name: C57BL/6-Trem2^{em2(TREM2*R47H)Aduci}/J
Genetic Background: C57BL/6
Availability: Available for pre-order. The Jackson Laboratory, Stock No. 037497.

Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) is a transmembrane receptor that modulates microglial activity and survival. A rare variant in TREM2, R47H, triples the risk of Alzheimer’s disease in heterozygous carriers.

This knock-in model carries a “humanized” TREM2 gene with the R47H mutation.

The levels of expression of the humanized allele and wild-type mouse allele are similar in heterozygous mice, as assessed by RNA-Seq of the hippocampi and cortices from 2-month-old animals.

Both heterozygous and homozygous mice are viable and fertile.

A knock-in line carrying the wild-type human TREM2 sequence (hTREM2-KI, JAX 038103) is also available from Jackson Labs to serve as controls in studies using hTREM2-R47H_KI mice.

Modification Details

Mouse genomic DNA between the start codon in exon 1 and the stop codon in exon 5 was replaced by the corresponding human genomic DNA sequence, and the  codon at position 47 was changed from CGC (encoding arginine) to CAC (encoding histidine).

Phenotype Characterization

COMMENTS / QUESTIONS

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References

Research Models Citations

1. hTREM2-KI

External Citations

1. JAX 038103
2. The Jackson Laboratory, Stock No. 037497

Further Reading

No Available Further Reading