|  Help  |  About  |  Contact Us

Allele : Trem2<tm1(TREM2*R47H)Aduci> triggering receptor expressed on myeloid cells 2; targeted mutation 1, Frank LaFerla

Primary Identifier  MGI:7327131 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Trem2
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
description  ES cell = C57BL/6J-derived embryonic stem (ES) cells containing a FLP expression cassette
molecularNote  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-flanked neomycin resistance cassette was inserted in the 3' UTR. The human TREM2 sequence contained a CGC to CAC mutation at position 47 resulting in an arginine to histidine mutation (R47H) orthologous 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).
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • hTREM2*R27H loxP,
  • hTREM2*R27H loxP
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele