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Vwf
Gene Detail
 Symbol
Name
ID
Vwf
Von Willebrand factor homolog
MGI:98941
Synonyms 6820430P06Rik, B130011O06Rik
Feature Type protein coding gene
Genetic Map
Chromosome 6
59.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr6:125546774-125686679 bp, + strand
From VEGA annotation of GRCm38

  139906 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:466  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: von Willebrand factor
Gene Tree: Vwf

Human
homologs
Human Homolog VWF, von Willebrand factor
NCBI Gene ID 7450
neXtProt AC  NX_P04275
Human Synonyms  F8VWF, VWD
Human Chr (Location)  12p13.3; chr12:5948874-6124670 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human VWF
Alleles
and
phenotypes
All alleles(37) : Gene trapped(28) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood.
 
Human Diseases Modeled Using Mouse Vwf (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process blood coagulation, cell adhesion, ...
Component endoplasmic reticulum, external side of plasma membrane, ...
Function chaperone binding, collagen binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (83 records)
Data Summary: Results (116)    Tissues (49)    Images (47)
Theiler Stages: 10, 11, 12, 13, 15, 16, 17, 19, 20, 21, 22, 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 32
RNA in situ 73
RT-PCR 11
cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(52) Genomic(12) cDNA(35) Primer pair(5)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000022190 (Evidence)
Ensembl Gene ModelENSMUSG00000001930 (Evidence)
Entrez Gene22371 (Evidence)
UniGene22339
DoTSDT.101257242, DT.101282326, DT.101347465, DT.101707069, DT.527845, DT.91430003, DT.91435531, DT.91442105, DT.94177313
NIA Mouse Gene IndexU007424
PDB1U0O
Consensus CDS ProjectCCDS20552.1
International Mouse Knockout Project StatusVwf
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022190 VEGA Gene Model | MGI Sequence Detail 139906 C57BL/6J ±  kb
transcript OTTMUST00000052714 VEGA | MGI Sequence Detail 8834 Not Applicable 
polypeptide OTTMUSP00000025031 VEGA | MGI Sequence Detail 2816 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(6) UniProt(9)
Polymorphisms PCR(4) : SNPs within 2kb(823 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006208 Cystine knot
InterPro IPR006207 Cystine knot, C-terminal
InterPro IPR002919 Trypsin Inhibitor-like, cysteine rich domain
InterPro IPR014853 Uncharacterised domain, cysteine-rich
InterPro IPR012011 von Willebrand factor
InterPro IPR002035 von Willebrand factor, type A
InterPro IPR001007 von Willebrand factor, type C
InterPro IPR001846 von Willebrand factor, type D domain
Protein Ontology PR:000017364 von Willebrand factor
References (Earliest) J:35223 Coffin JD, et al., Angioblast differentiation and morphogenesis of the vascular endothelium in the mouse embryo. Dev Biol. 1991 Nov;148(1):51-62
(Latest) J:205720 Hillgruber C, et al., Blocking von Willebrand factor for treatment of cutaneous inflammation. J Invest Dermatol. 2014 Jan;134(1):77-86
All references(185)
Other
accession IDs
MGD-MRK-15419, MGI:2141444, MGI:2443130

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory