Research Models

Trem2 Y38C KI

Species: Mouse
Genes: Trem2
Mutations: TREM2 Y38C
Modification: Trem2: Knock-In
Disease Relevance: Frontotemporal Dementia
Strain Name: C57BL/6J-Trem2em3Adiuj/J
Genetic Background: C57BL/6J
Availability: The Jackson Lab: Stock# 029725; Cryopreserved

Summary

The Y38C variant, in a homozygous state, was found in a Turkish man who developed seizures and a frontotemporal dementia (FTD)-like syndrome in his fourth decade, with death occurring 12 years after symptom onset (Guerreiro et al., 2013). In addition, two Turkish sisters presenting with an FTD-like syndrome were found to be compound heterozygotes, carrying both the Y38C and D86V mutant alleles (Guerreiro et al., 2013).

CRISPR/Cas9 was used to introduce a point mutation into the endogenous mouse Trem2 gene, resulting in a tyrosine-to-cysteine amino acid substitution at amino acid 38 (Y38C). Homozygotes are viable and fertile. Characterization data is pending.

Modification Details

CRISPR/Cas9 was used to introduce a Y38C point mutation into the mouse Trem2 gene.

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+.

Absent

No Data

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

Last Updated: 30 Nov 2018

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References

Paper Citations

  1. . 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.
  2. . 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.

Other Citations

  1. Y38C

External Citations

  1. The Jackson Lab: Stock# 029725

Further Reading

No Available Further Reading