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F5tm2Dgi
Targeted Allele Detail
Nomenclature
Symbol: F5tm2Dgi
Name: coagulation factor V; targeted mutation 2, David Ginsburg
MGI ID: MGI:1931528
Synonyms: FvL, FVLeiden, FVLq, FvQ, FvR504Q
Gene: F5  Location: Chr1:164151838-164220277 bp, + strand  Genetic Position: Chr1, 71.46 cM
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, Single point mutation
 
Mutation detailsA point mutation was introduced which altered the codon corresponding to amino acid 504 from an arginine to a glutamine (R504Q). A loxP flanked neomycin cassette in intron 10 was removed by Cre-mediated recombination in ES cells prior to blastocyst injection. (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 structures
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:  32 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:  16 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
09/10/2019
MGI 6.14
The Jackson Laboratory