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Allele : F5<tm2Dgi> coagulation factor V; targeted mutation 2, David Ginsburg

Primary Identifier  MGI:1931528 Allele Type  Targeted
Attribute String  Humanized sequence, Hypomorph Gene  F5
Inheritance Mode  Recessive Transmission  Germline
Strain of Origin  129S2/SvPas Is Recombinase  false
Is Wild Type  false
molecularNote  A point mutation was introduced which altered the codon corresponding to amino acid 532 from arginine to glutamine (p.R532Q or p.R504Q in reference to mature protein with signal peptide removed). The loxP site flanked neomycin resistance gene cassette inserted into intron 10 was removed by subsequent Cre-mediated recombination. This mutation is the equivalent of the human p.R506Q Factor 5 Leiden mutation (or UNIPROT:P12259:p.R534Q for peptide including signal peptide).
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • FvL,
  • FV<Leiden>,
  • Fv<Q>,
  • FV<Leiden>,
  • FVLq,
  • FvL,
  • Fv<Q>,
  • FVLq,
  • FvR504Q,
  • FvR504Q
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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

24 Publication categories

Trail: Allele