Research Models

Trem2 KO (JAX)

Species: Mouse
Genes: TREM2
Modification: TREM2: Knock-Out
Disease Relevance: Alzheimer's Disease, Frontotemporal Dementia, Nasu-Hakola Disease
Strain Name: C57BL/6J-Trem2em2Adiuj/J
Genetic Background: C57BL/6J
Availability: The Jackson Lab: Stock# 027197; Live


Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fractures and early onset frontotemporal dementia (Paloneva et al., 2002). TREM2 variants have also been associated with frontotemporal dementia in the absence of bone abnormalities (Guerreiro et al., 2013; Guerreiro et al., 2013; LaBer et al., 2014). Some variants may confer increased risk for Alzheimer’s disease and other neurodegenerative disorders (Jay et al., 2017; Yeh et al., 2017).

Trem2 KO mice may be used to study the biological consequences of the loss of TREM2 function. Trem2 KO mice may be crossed with APP and tau transgenic mice to study the effects of loss of TREM2 function in the context of amyloidosis and tauopathy.

Modification Details

To generate Trem2 KO mice, Trem2 expression was ablated using CRISPR/Cas9 gene editing. Non-homologous end joining resulted in a 175bp deletion that introduced a stop codon at amino acid 17.

Phenotype Characterization

When visualized, these models will distributed over a 18 month timeline demarcated at the following intervals: 1mo, 3mo, 6mo, 9mo, 12mo, 15mo, 18mo+.


No Data

  • Neuronal Loss
  • Plaques
  • Tangles
  • Gliosis
  • Synaptic Loss
  • Changes in LTP/LTD
  • Cognitive Impairment


No data.


No data.

Neuronal Loss

No data.


No data.

Synaptic Loss

No data.

Changes in LTP/LTD

No data.

Cognitive Impairment

No data.


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Paper Citations

  1. . Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet. 2002 Sep;71(3):656-62. Epub 2002 Jun 21 PubMed.
  2. . Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL). In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2002 Jan 24 [updated 2015 Mar 12].
  3. . Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013 Jan;70(1):78-84. PubMed.
  4. . Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging. 2013 Dec;34(12):2890.e1-5. Epub 2013 Jul 17 PubMed.
  5. . Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. Epub 2014 Apr 18 PubMed.
  6. . TREM2 in Neurodegenerative Diseases. Mol Neurodegener. 2017 Aug 2;12(1):56. PubMed.
  7. . TREM2, Microglia, and Neurodegenerative Diseases. Trends Mol Med. 2017 Jun;23(6):512-533. Epub 2017 Apr 22 PubMed.

External Citations

  1. The Jackson Lab: Stock# 027197

Further Reading

No Available Further Reading