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Allele : Abca7<em1Aduci> ATP-binding cassette, sub-family A member 7; endonuclease-mediated mutation 1, Frank LaFerla

Primary Identifier  MGI:6506295 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Abca7
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Guide RNA (CTTGGTGGCAGTGTGCATAG) is designed to create a guanine to adenine missense mutation resulting in a valine to methionine change (V1613M) in the gene. This mutation (SNP rs117187003) is homologous to the human V1599M SNP which has been associated with increased risk of sporadic Alzheimer's disease. Two silent DNA mutations were also introduced just upstream of the mutation.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Abca7*V1613M,
  • Abca7*V1613M
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele