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von Willebrand disease in the RIIIS/J mouse is caused by a defect outside
of the von Willebrand factor gene [published erratum appears in Blood 1995
Sep 15;86(6):2461]
WC Nichols, KA Cooney, KL Mohlke, JD Ballew, A Yang, ME Bruck, M Reddington, EK Novak, RT Swank and D Ginsburg
Howard Hughes Medical Institute, Ann Arbor, MI.
An animal model for human type I von Willebrand disease (vWD) has been
previously described in the inbred mouse strain RIIIS/J. Murine vWD is
characterized by a prolonged bleeding time, normal von Willebrand factor
(vWF) multimer distribution, autosomal dominant inheritance, and
proportionately decreased plasma vWF antigen, ristocetin cofactor, and
factor VIII (FVIII) activities. To study the molecular genetics of murine
vWD, a portion of the vWF gene surrounding exon 28 was cloned, sequenced,
and used to develop two informative DNA sequence polymorphisms for rapid
genotyping by DNA polymerase chain reaction. RIIIS/J mice were crossed with
PWK/Ph mice, an inbred line of Mus musculus musculus, and the F1 progeny
backcrossed to the parental PWK/Ph strain. vWF antigen levels in F1 mice
were not significantly different from the parental RIIIS/J strain but were
markedly decreased compared with the parental PWK/Ph mice. Genetic linkage
analysis of 104 backcross progeny showed no correlation between vWF antigen
level and vWF genotype. These data indicate that murine vWD is caused by a
defect at a novel genetic locus, distinct from the murine vWF gene. The
distribution of vWF antigen levels among backcross progeny suggests the
presence of one major dominant vWD gene in the RIIIS/J mouse with possible
modifying contributions from one or more additional minor loci. These
observations may provide new insights into the molecular basis and variable
expressivity of human vWD.
Volume 83,
Issue 11,
pp. 3225-3231,
06/01/1994
Copyright © 1994 by The American Society of Hematology
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