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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
