Summary |
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Variant origin |
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Variant description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:37436Mvwf (modifier of von Willebrand factor), a major locus affecting the level of von Willebrand factor in plasma, mapped to mouse Chromosome 11 in a large population of (RIIIS/J x CASA/Rk)F2 intercross animals. Parental strain RIIIS/J exhibits significantly reduced von Willebrand antigen and factor VIII levels similar to human type I von Willebrand disease. Linkage analysis was performed using 41 microsatellite markers spanning the mouse genome. Mvwf shows linkage to D11Mit54 (56 cM) and this locus accounts for 63% of the phenotypic variation. The existence of Mvwf was confirmed in a (RIIIS/J PWK)F1 x PWK backcross population. Inheritance of at least 1 RIIIS/J-derived allele at Mvwf confers decreased levels of plasma von Willebrand factor, indicating a dominant mode of inheritance. Fine map analysis localized Mvwf to an interval between Ngfr/D11Mit263 (55.6 cM) and Hoxb9 (56 cM). Gip is a potential candidate gene for Mvwf. Itgb2 (68 cM), Col1a (56 cM), and Itga3 (56 cM) were excluded as candidate genes for Mvwf. The presence of at least one minor modifing loci is thought to contribute to plasma von Willebrand factor levels in addition to Mvwf. The Mvwf locus is syntentic to a region on human Chromosome 17q21-q22. |
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References |
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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 12/10/2024 MGI 6.24 |
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