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Allele : Trem2<em1Gela> triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 1, Gary E Landreth

Primary Identifier	MGI:6198553	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence, Hypomorph	Gene	Trem2
Strain of Origin	Not Specified	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology introduced a G to A SNP encoding for the arginine-to-histidine (R47H) missense mutation into the gene. No off-target mutations were found. A 42% decrease in RNA levels in the brain is seen.

mutations:
Single point mutation

synonyms:
Trem2<R47H>,
Trem2<R47H>

earliestPublication:
Cheng-Hathaway PJ, et al. (2018) The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease. Mol Neurodegener 13(1):29

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

4 Publication categories

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