UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Factor VII (FVII) Deficiency

Introduction

Factor VII is a clotting factor synthesized in the liver that is necessary to initiate blood coagulation when vascular injury occurs. Factor VII deficiency is a mild to moderate inherited blood clotting disorder present in Beagle, Airedale, Alaskan Klee Kai, American Foxhound, Finnish Hound, German Wirehaired Pointer, Giant Schnauzer, Irish Water Spaniel, Japanese Spitz, Miniature Schnauzer, Papillon/Phalene, Sealyham Terrier, Scottish Deerhound, and Welsh Springer Spaniel breeds. It is inherited as an autosomal recessive, thus both females and males can be affected if they carry 2 copies of the defective gene but animals with only 1 copy are not affected.

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Results reported as:

N/N Normal – no copies of the Factor VII deficiency mutation are present
N/FVII Carrier – 1 copy of the Factor VII deficiency mutation is present. If carriers are bred together, 25% of offspring are expected to be affected.
FVII/FVII Affected

This test is specific for the mutation known to cause Factor VII deficiency in Beagle, Airedale, Alaskan Klee Kai, Giant Schnauzer and Scottish Deerhound breed dogs.

Reference: Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U and High KA (2006). A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. Journal of Thrombosis and Haemostasis, 4:2616–2622.
 
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