OMIA 000361-9615 : Factor VII deficiency in Canis lupus familiaris

In other species: Asiatic elephant

Possibly relevant human trait(s) and/or gene(s) (MIM number): 227500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Callan et al. (2005, 2006) were the first to report a molecular basis for this disorder in dogs, as follows: "a G to A missense mutation in exon 5 in the affected Beagles, resulting in substitution of glycine 96 (GGA) to glutamic acid (GAA) in the second epidermal growth factor-like domain."

Breeds: Alaskan Klee Kai, Beagle, Scottish Deerhound.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
F7 coagulation factor VII (serum prothrombin conversion accelerator) Canis lupus familiaris 22 NC_006604.3 (60572459..60582743) F7 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Beagle Factor VII deficiency F7 missense CanFam3.1 22 g.60578895 c.407G>A p.Gly136Glu 2006 16961583 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Keeshen, T.P., Case, J.B., Runge, J.J., Singh, A., Mayhew, P.D., Steffey, M.A., Culp, W.T.N. :
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012-2014). J Am Vet Med Assoc 251:1053-1058, 2017. Pubmed reference: 29035661. DOI: 10.2460/javma.251.9.1053.
2016 Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H. :
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
2011 Knudsen, T., Kjelgaard-Hansen, M., Tranholm, M., Wiinberg, B., Clausen, J.T., Hansen, J.J., Nichols, T.C., Kjalke, M., Jensen, A.L., Kristensen, A.T. :
Canine specific ELISA for coagulation factor VII. Vet J 190:352-8, 2011. Pubmed reference: 21216638. DOI: 10.1016/j.tvjl.2010.11.010.
Mischke, R. :
Determination of canine coagulation factor VII. Vet J 190:305-6, 2011. Pubmed reference: 22108258. DOI: 10.1016/j.tvjl.2011.10.005.
2009 Carlstrom, LP., Jens, JK., Dobyns, ME., Passage, M., Dickson, PI., Ellinwood, NM. :
Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med 59:378-82, 2009. Pubmed reference: 19712579.
Nichols, TC., Dillow, AM., Franck, HW., Merricks, EP., Raymer, RA., Bellinger, DA., Arruda, VR., High, KA. :
Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency. ILAR J 50:144-67, 2009. Pubmed reference: 19293459.
2007 Daly, M.L., Giger, U. :
A rodenticide exposed and bleeding beagle dog with hereditary factor VII deficiency J Vet Emerg Crit Care 17:170-174, 2007.
Kaae, JA., Callan, MB., Brooks, MB. :
Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med 21:976-81, 2007. Pubmed reference: 17939552.
2006 Callan, MB., Aljamali, MN., Margaritis, P., Griot-Wenk, ME., Pollak, ES., Werner, P., Giger, U., High, KA. :
A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 4:2616-22, 2006. Pubmed reference: 16961583. DOI: 10.1111/j.1538-7836.2006.02203.x.
Withnall, E., Giger, U. :
Effects of recombinant human activated factor VII and canine fresh frozen plasma in Beagles with hereditary coagulation factor VII deficiency Journal of Veterinary Internal Medicine 20:766 only, 2006.
2005 Callan, M. B., Aljamali, M. N., Griot-Wenkl, M. E., Pollak, E. S., Werner, P., Giger, U., High, K. A. :
Molecular characterization of hereditary factor VII deficiency in the beagle Journal of Veterinary Internal Medicine 19:448-449 (abstract), 2005.
2003 Mischke, R., Diedrich, M., Nolte, I. :
Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma Veterinary Journal 166:79-85, 2003.
1999 Macpherson, R., Scherer, J., Ross, M.L., Gentry, P.A. :
Factor VII deficiency in a mixed breed dog Canadian Veterinary Journal - Revue Veterinaire Canadienne 40:503-505, 1999.
1997 Mills, J.N., Labuc, R.H., Lawley, M.J. :
Factor VII deficiency in an Alaskan Malamute Australian Veterinary Journal 75:320-322, 1997. Pubmed reference: 9196814.
1993 Brooks, M., Catalfamo, J. :
Buccal Mucosa Bleeding Time Is Prolonged in Canine Models of Primary Hemostatic Disorders Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434.
1991 Ferguson, J.M., MacGregor, I.R., McLaughlin, L.F., Prowse, C.V. :
Use of factor VII-deficient beagles bred by artificial insemination to evaluate mechanisms of thrombosis associated with prothrombin complex concentrates. Blood Coagul Fibrinolysis 2:731-4, 1991. Pubmed reference: 1799659.
Prydz, H., Spurling, N.W., Boyce, A.J., Mifsud, C.V.J. :
Phospholipase-C-Sensitive Factor-VII Complexes in Dog Plasma Thrombosis Research 64:387-394, 1991. Pubmed reference: 1788825.
1988 Fogh, J.M., Fogh, I.T. :
Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382.
Spurling, N.W. :
Hereditary blood coagulation factor-VII deficiency: a comparison of the defect in Beagles from several sources Comparative Biochemistry and Physiology. A. Comparative Physiology 89:461-464, 1988. Pubmed reference: 2896576.
Vander Velden, P., Giles, A.R. :
A detailed morphological evaluation of the evolution of the haemostatic plug in normal, factor VII and factor VIII deficient dogs. Br J Haematol 70:345-55, 1988. Pubmed reference: 3207628.
1987 Noguchi, M., Fujii, T., Michizono, A. :
[Congenital deficiency of factor VII in a canine family] [Japanese] Experimental Animals 36:423-430, 1987. Pubmed reference: 3436375.
1986 Spurling, N.W. :
Hereditary blood coagulation factor-VII deficiency in the Beagle: immunological characterisation of the defect Comparative Biochemistry and Physiology. A. Comparative Physiology 83:755-760, 1986. Pubmed reference: 2870866.
1984 Wheeler, S.L., Weingand, K.W., Thrall, M.A., Berg, R.J., Schwarz, P.D. :
Persistent uterine and vaginal hemorrhage in a Beagle with factor-VII deficiency Journal of the American Veterinary Medical Association 185:447-448, 1984. Pubmed reference: 6469849.
1980 Spurling, N.W. :
Hereditary disorders of haemostasis in dogs: a critical review of the literature Veterinary Bulletin 50:151-173, 1980.
1974 Dodds, W.J. :
Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb 2:215-47, 1974. Pubmed reference: 4604529.
Spurling, N.W., Burton, L.K., Pilling, T. :
Canine factor-VII deficiency: experience with a modified thrombotest method in distinguishing between the genotypes. Res Vet Sci 16:228-39, 1974. Pubmed reference: 4830986.
Spurling, N.W., Peacock, R., Pilling, T. :
The clinical aspects of canine factor-VII deficiency including some case histories. J Small Anim Pract 15:229-39, 1974. Pubmed reference: 4449220.
1972 Spurberg, N.W., Burton, L.K., Peacock, R., Pilling, T. :
Hereditary factor VII deficiency in the Beagle British Journal of Haematology 23:59-67, 1972. Pubmed reference: 5045961.
von Schaewen, H. :
[Thromboplastic activity of brain extracts from various species in normal plasma and in congenital factor VII deficient plasma from dogs]. Berl Munch Tierarztl Wochenschr 85:149-52, 1972. Pubmed reference: 5027610.
1970 Garner, R., Conning, D.M. :
The assay of human factor VII by means of modified factor VII deficient dog plasma British Journal of Maematology 18:57-66, 1970. Pubmed reference: 5416591.
Hall, D.E. :
Sensitivity of different thromboplastin reagents to factor VII deficiency in the blood of beagle dogs. Lab Anim 4:55-9, 1970. Pubmed reference: 5527820.
1968 Gaston, L.W., Spivack, A.R. :
Preparation of canine factor VII deficient substrate plasma. J Lab Clin Med 72:548-55, 1968. Pubmed reference: 5677303.
1967 Garner, R., Hermoso-Perez, C., Conning, D.M. :
Factor VII deficiency in Beagle dog plasma and its use in the assay of human factor VII Nature 216:1130-1131, 1967. Pubmed reference: 6075264.
1962 Mustard, J.F., Secord, D., Hoeksema, T.D., Downie, H.G., Rowsell, H.C. :
Canine factor-VII deficiency. Br J Haematol 8:43-7, 1962. Pubmed reference: 14477610.

Edit History


  • Created by Frank Nicholas on 14 Jul 2006
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Oct 2012
  • Changed by Frank Nicholas on 26 Jan 2017