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
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.
CRISPR/Cas9 was used to introduce a Y38C point mutation into the mouse Trem2 gene.
When visualized, these models will distributed over a 18 month timeline demarcated at the following intervals: 1mo, 3mo, 6mo, 9mo, 12mo, 15mo, 18mo+.
- Neuronal Loss
- Synaptic Loss
- Changes in LTP/LTD
- Cognitive Impairment
Last Updated: 30 Nov 2018
- Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. 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.
- Guerreiro R, Bilgic B, Guven G, Brás J, Rohrer J, Lohmann E, Hanagasi H, Gurvit H, Emre M. 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.
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