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Allele : Mthfr<em1Adiuj> methylenetetrahydrofolate reductase; endonuclease-mediated mutation 1, MODEL-AD Center

Primary Identifier  MGI:6202965 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Mthfr
Strain of Origin  B6(SJL)-Apoe<tm1.1(APOE*4)Adiuj> Trem2<em1Adiuj>/J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 genome editing is used to introduce a point mutation (GCC to GTC) creating the A262V mutation. This C to T mutation is homologous to the human C677T polymorphism that has been associated with various diseases including Alzheimer's, vascular and metabolic disease.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Mthfr<677C>T>,
  • Mthfr<677C>T>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele