Trem2^em1Gela
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trem2^em1Gela
• Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 1, Gary E Landreth
• MGI ID: MGI:6198553
• Synonyms: Trem2^R47H
• Gene: Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
• Alliance: Trem2^em1Gela page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: 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. (J:264653)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Trem2 Mutation: 68 strains or lines available

References

• Original: J:264653 Cheng-Hathaway PJ, et al., The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease. Mol Neurodegener. 2018 Jun 1;13(1):29
• All: 2 reference(s)