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F5tm2Dgi
Targeted Allele Detail
Summary
Symbol: F5tm2Dgi
Name: coagulation factor V; targeted mutation 2, David Ginsburg
MGI ID: MGI:1931528
Synonyms: FvL, FVLeiden, FVLq, FvQ, FvR504Q
Gene: F5  Location: Chr1:163979407-164047846 bp, + strand  Genetic Position: Chr1, 71.46 cM
Alliance: F5tm2Dgi 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 detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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:  20 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory