Mvwf^CASA/Rk
QTL Variant Detail

Summary

• QTL variant: Mvwf^CASA/Rk
• Name: modifier of von Willebrand factor; CASA/Rk
• MGI ID: MGI:3617426
• QTL: Mvwf Location: Chr11:95459644-96176602 bp Genetic Position: Chr11, Syntenic

Variant origin

• Strain of Specimen: CASA/Rk

Variant description

• Allele Type: QTL
• Inheritance: Recessive

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:37436

Mvwf (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.

References

• Original: J:37436 Mohlke KL, et al., A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proc Natl Acad Sci U S A. 1996 Dec 24;93(26):15352-7
• All: 1 reference(s)