F5^tm2Dgi
Targeted Allele Detail

Summary

• Symbol: F5^tm2Dgi
• Name: coagulation factor V; targeted mutation 2, David Ginsburg
• MGI ID: MGI:1931528
• Synonyms: FvL, FV^Leiden, FVLq, Fv^Q, FvR504Q
• Gene: F5 Location: Chr1:163979407-164047846 bp, + strand Genetic Position: Chr1, 71.46 cM
• Alliance: F5^tm2Dgi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66260
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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). (J:66260)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any F5 Mutation: 159 strains or lines available

References

• Original: J:66260 Cui J, et al., Spontaneous thrombosis in mice carrying the factor V leiden mutation. Blood. 2000 Dec 15;96(13):4222-6
• All: 21 reference(s)