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CRISPR/Cas9 technology generated a CACAGCACC to ATCCCCGAC change, resulting in the substitution of amino acids histidine 157, serine 158 and threonine 159 (HST) to isoleucine, proline, and aspartate (IPD). IPD are the least-preferred amino acids for the sub-site biding of ADAM10/17 and this change is expected to reduce TREM2 proteolytic cleavage. (J:337819)
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
