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Allele : Hcfc1<em1Poche> host cell factor C1; endonuclease-mediated mutation 1, Ross Poche

Primary Identifier  MGI:6860324 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Hcfc1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a C to T change at position 344, resulting in an alanine to valine substitution at amino acid 115 (p.A115V). This is the most commonly observed mutation in patients with methylmalonic aciduria and homocystinuria cblX type.
  • mutations:
  • Single point mutation
  • synonyms:
  • Hcfc1<A115V>,
  • Hcfc1<A115V>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele