Trem2em2(TREM2*R47H)Aduci
Endonuclease-mediated Allele Detail
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Symbol: |
Trem2em2(TREM2*R47H)Aduci |
Name: |
triggering receptor expressed on myeloid cells 2; endonuclease-mediated mutation 2, Frank LaFerla |
MGI ID: |
MGI:7327122 |
Synonyms: |
hTREM2-R47H_KI |
Gene: |
Trem2 Location: Chr17:48653429-48659304 bp, + strand Genetic Position: Chr17, 23.99 cM, cytoband C
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Alliance: |
Trem2em2(TREM2*R47H)Aduci page
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Allele Type: |
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Endonuclease-mediated (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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Trem2em2(TREM2*R47H)Aduci expresses
1 gene
Knock-in expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
TREM2 (54209) |
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CGC to CAC mutation at position 47 |
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Mutation details: The targeting vector is designed to replace mouse genomic DNA between the initiator translation codon in exon 1 and the translation termination codon in exon 5 with the corresponding mutant human genomic DNA sequence flanked by loxP sites. An FRT site flanked neomycin resistance cassette was inserted in the 3' UTR. The human TREM2 sequence contains a CGC to CAC mutation at position 47 resulting in an arginine to histidine mutation (p.R47H) equivalent to the location of human SNP rs75932628. Human SNP rs75932628 has been found to be one of the strongest genetic risk factors for late-onset Alzheimer's disease (AD). To ensure normal levels of TREM2*R47H transcripts, ssODN repair template, tracrRNA and CAS9 nuclease were introduced into the cytoplasm of Trem2tm1(TREM2*R27H)Aduci-derived zygotes with well recognized pronuclei to remove both loxP sites and the remaining FRT site. This also served to restore the mouse 5' UTR and 3' UTR sequences.
(J:101977)
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Original: |
J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017; |
All: |
1 reference(s) |
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