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Gene Review:

Mvwf - modifier of von Willebrand factor

Mus musculus

Mohlke, K.L. et al., Mohlke, K.L. et al., Mohlke, K.L. et al.

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Disease relevance of Mvwf

We have now used these genetic markers to construct a contig of yeast and bacterial artificial chromosomes and bacteriophage P1 clones spanning the approximately 300-kb Mvwf nonrecombinant interval [1].

High impact information on Mvwf

We have identified altered lineage-specific expression of an N-acetylgalactosaminyltransferase gene, Galgt2, as the gain-of-function mechanism responsible for the action of the Mvwf locus, a major modifier of plasma von Willebrand factor (VWF) level in RIIIS/J mice [2].
The Mvwf candidate interval between Ngfr and Hoxb9 is approximately 0.5 centimorgan (cM) [3].

Biological context of Mvwf

Transgenic expression of Galgt2 directed to vascular endothelial cells reproduces the low VWF phenotype, confirming this switch in lineage-specific gene expression as the likely molecular mechanism for Mvwf [2].

References

Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Mohlke, K.L., Purkayastha, A.A., Westrick, R.J., Ginsburg, D. Genomics (1998) [Pubmed]
Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Mohlke, K.L., Purkayastha, A.A., Westrick, R.J., Smith, P.L., Petryniak, B., Lowe, J.B., Ginsburg, D. Cell (1999) [Pubmed]
A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Mohlke, K.L., Nichols, W.C., Westrick, R.J., Novak, E.K., Cooney, K.A., Swank, R.T., Ginsburg, D. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]

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