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Vwftm2.1Diac
Targeted Allele Detail
Summary
Symbol: Vwftm2.1Diac
Name: Von Willebrand factor; targeted mutation 2.1, Thomas G Diacovo
MGI ID: MGI:5637366
Synonyms: VWFI1309V, R1326H
Gene: Vwf  Location: Chr6:125529911-125663642 bp, + strand  Genetic Position: Chr6, 59.32 cM
Alliance: Vwftm2.1Diac page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:220792
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA guanine to adenine at position 3925 (ATC>GTC) and adenine at position 3977 instead of guanine (CGT>CAT) were introduced in exon 28 to create the I1309V and R1325H mutations. In addition, a floxed pGK-Neo cassette was inserted downstream of exon 28 which was removed via cre-mediated excision. (J:220792)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Vwf Mutation:  139 strains or lines available
References
Original:  J:220792 Chen J, et al., Exploiting the kinetic interplay between GPIbalpha-VWF binding interfaces to regulate hemostasis and thrombosis. Blood. 2014 Dec 11;124(25):3799-807
All:  1 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
04/23/2024
MGI 6.23
The Jackson Laboratory