Trem2^em3Npa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trem2^em3Npa
• Name: triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 3, Novartis Pharma AG
• MGI ID: MGI:7509136
• Synonyms: TREM2-sol
• Gene: Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
• Alliance: Trem2^em3Npa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced a stop-codon (TGA) after the amino acid histidine 157 into the cleavage-site of TREM2. In addition, a restriction enzyme site Eco57I (CACTGAAGC) replaced the wild-type amino acids histidine, serine and threonine (HST; CACAGCACC). FACS confirmed absence of protein on the cell surface of bone marrow derived macrophages of homozygotes and soluble TREM2 levels are highly reduced. RNA levels are reduced in brain and may account for the reduced soluble protein levels. (J:337778)

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: 65 strains or lines available

References

• Original: J:337778 Beckmann N, et al., Genetic models of cleavage-reduced and soluble TREM2 reveal distinct effects on myelination and microglia function in the cuprizone model. J Neuroinflammation. 2023 Feb 8;20(1):29
• All: 1 reference(s)