Inheritance of a new bleeding disease in a herd of swine with Willebrand's disease.
A herd of swine affected by Willebrand's disease was begun in 1967 at the Mayo Clinic in order to study the inherited hemostatic abnormality in swine as a model for the human disease. Affected individuals have bleeding times in excess of 15 minutes, extremely low levels of Willebrand factor (less than or equal to 0.25 percent of normal), and decreased levels of VIII coagulant activity. Individuals with long bleeding times, higher levels of Willebrand factor and normal levels of VIII coagulant activity began to appear in the colony. It is hypothesized that this new (N) condition is inherited as a simple autosomal recessive (N/n) at a locus separate and independent of the similarly autosomal recessive (A/a) von Willebrand locus. In addition, the Willebrand locus is epistatic to the N locus, i.e., individuals will only express the new condition provided there is at least one normal allele at the von Willebrand locus. Therefore, individuals with genotype aa--are all von Willebrand phenotypically, and A-nn individuals have the new disease.
D000818:Animals; D005260:Female; D006580:Genetic Carrier Screening; D006487:Hemostasis; D008297:Male; D010375:Pedigree; D012016:Reference Values; D013552:Swine; D013553:Swine Diseases / Q000235:genetics*; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics / Q000662:veterinary*