OMIA 000437-9913 : Haemophilia A in Bos taurus
Analysis of whole-genome sequence from a German Fleckvieh bull affected with a mild form of this disorder and from 19 non-affected cattle from other breeds enabled Reinartz et al. (2018) to identify a likely causal missense variant, namely ss213751737:g.38842314A>T; p.His45Leu in the F8 gene. A synonymous variant ss2137517373:g.38884774G>A; p.Ala361Ala was in complete disequilibrium with the former variant.Prevalence: Reinartz et al. (2018): "The frequency of the mutant alleles T and A were 6/121 chromosomes in the herd of origin." Breeds: German Fleckvieh, Japanese Brown. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|F8||coagulation factor VIII||Bos taurus||X||NC_037357.1 (36013125..36155734)||F8||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1038||German Fleckvieh||Haemophilia A||F8||missense||Naturally occurring variant||ARS-UCD1.2||X||g.36017426A>T||c.134A>T||p.(H45L)||ENSBTAT00000036726.5:c.134A>T; ENSBTAP00000036581.4:p.His45Leu||rs1117392179||rs1117392179||2018||29774585|
|194||Japanese Brown||Haemophilia A||F8||missense||Naturally occurring variant||ARS-UCD1.2||X||g.36145188T>A||c.6458T>A||p.(L2153H)||2009||19456318||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2018||Reinartz, S., Weiß, C., Mischke, R., Distl, O. :|
|A mild form of haemophilia A is associated with two factor VIII missense mutations in German Fleckvieh cattle. Anim Genet 49:350-351, 2018. Pubmed reference: 29774585. DOI: 10.1111/age.12672.|
|2009||Khalaj, M., Abbasi, AR., Shimojo, K., Moritomo, Y., Yoneda, K., Kunieda, T. :|
|A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A. Anim Genet 40:763-765, 2009. Pubmed reference: 19456318. DOI: 10.1111/j.1365-2052.2009.01906.x.|
|2008||Moritomo, Y., Shimojo, K., Miyadera, K., Khalaj, M., Asano, Y., Kunieda, T., Ogawa, H. :|
|Clinical and pathological aspects of hemophilia a in Japanese Brown cattle. J Vet Med Sci 70:293-6, 2008. Pubmed reference: 18388431.|
|1984||Healy, P.J., Sewell, C.A., Exner, T., Morton, A.G., Adams, B.S. :|
|Haemophilia in Hereford cattle: factor VIII deficiency. Aust Vet J 61:132-3, 1984. Pubmed reference: 6743161.|
|1982||Dodds, W.J. :|
|An effective mass-screening program for animal models of the inherited bleeding disorders. Prog Clin Biol Res 94:117-32, 1982. Pubmed reference: 6981819.|
- Created by Frank Nicholas on 10 Jul 2009
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 02 Mar 2019