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Factor VIII Deficiency
Breed: Bobtail/ Old English Sheepdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Factor VIII Deficiency
OMIA
437
Gene Name
FVIII
Mutation
c.1412C>G
Mutation 2
c.1643G>A
Mutation 3
p.Cys548Tyr
Test Type
Genetic Disease/Disorder
Details
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Details 2
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Published
Hough, C., Kamisue, S., Cameron, C., Notley, C., Tinlin, S., Giles, A., Lillicrap, D. : Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: Similarities with the intron 22 inversion mutation in human hemophilia Thrombosis & Haemostasis 87:659-665, 2002. Pubmed reference: 12008949.
Published 2
Lozier, J.N., Nichols, T.C. : Animal Models of Hemophilia and Related Bleeding Disorders. Semin Hematol 50:175-184, 2013. Pubmed reference: 23956467. DOI: 10.1053/j.seminhematol.2013.03.023.
Published 3
Lozier, J.N., Dutra, A., Pak, E., Zhou, N., Zheng, Z.L., Nichols, T.C., Bellinger, D.A., Read, M., Morgan, R.A. : The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion Proceedings of the National Academy of Sciences of the United States of America 99:12991-12996, 2002. Pubmed reference: 12242334. DOI: 10.1073/pnas.192219599.
Body/System/Process
Blood
OMIA Url
Inheritance
XR
Breed Specific Info
Researched Breeds
Boxer
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Factor VIII Deficiency or Hemophilia A; mutation originally found in Old English Sheepdog
Gene Name
FVIII
Mutation
c.1412C>G
Nature of test
mutation test
FCI Number
16
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Factor VIII Deficiency or Hemophilia A; mutation originally found in Old English Sheepdog
Gene Name
FVIII
Mutation
c.1412C>G
Nature of test
mutation test
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Factor VIII Deficiency or Hemophilia A; mutation originally found in Old English Sheepdog
Gene Name
FVIII
Mutation
c.1643G>A; p.Cys548Tyr
Nature of test
mutation test
FCI Number
16
GTP Breed
Bobtail
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
FVIII
Mutation
c.1412C>G; c.1643G>A; c.1643G>A
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