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Allele : Abi3<em1Aduci> ABI family member 3; endonuclease-mediated mutation 1, Frank LaFerla

Primary Identifier  MGI:6508549 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Abi3
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing is used to create an TCT to TTC missense mutation resulting in a serine to phenylalanine change (S212F). This mutation (SNP rs616338) is homologous to the human S209F SNP which has been shown to correlate with increased risk of sporadic Alzheimer's disease. One silent DNA mutation was also introduced.
  • mutations:
  • Insertion of gene trap vector
  • synonyms:
  • Abi3*S209F,
  • Abi3*S209F
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

2 Publication categories