OMIA:000363-9913 : Factor XI deficiency in Bos taurus (taurine cattle) |
In other species: dog , domestic cat
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 264900 (gene) , 612416 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2000
Cross-species summary: Congenital factor XI deficiency / F11 deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. [Orphanet : 329] The disease is also called plasma thromboplastin antecedent (PTA) deficiency, haemophilia C, or Rosenthal syndrome.
Species-specific symbol: FXI
Mapping: 27q14
Molecular basis: In a conference abstract, Haton et al. (2000) reported that, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), they had identified a 76-bp insertion in exon 12 of the Factor XI gene as being causative of Factor XI deficiency in Holstein cattle. This discovery was fully described by Marron et al. (2004) who explained that "This insertion introduces a stop codon that results in a mature FXI protein lacking the functional protease domain encoded by exons 13, 14 and 15." A second insertion (involving 15 bp in exon 9 of the same gene, together with "a single-nucleotide substitution of C to A at the insertion site") was reported in Japanese Black cattle by Kunieda et al. (2005). The best way to designate this variant is to regard it as a delins, comprising a 1bp (C) deletion and a 16bp insertion, with the insert ending in A, i.e. g.16305660delinsATATGTGCAGAATATA. Mondal et al. (2016) reported the 76bp insertion variant in Sahiwal cattle.
Genetic testing: Marron et al. (2004) developed a diagnostic test based on a 76 bp insertion in exon 12 of the FXI gene for genotyping Holstein cattle (Mohammad Shariflou 13/11/2006).
Breeds:
Holstein (black and white) (Cattle) (VBO_0000237),
Japanese Black, Japan (Cattle) (VBO_0004987),
Japanese Brown, Japan (Cattle) (VBO_0004988),
Sahiwal (Cattle) (VBO_0000365).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| F11 | coagulation factor XI | Bos taurus | 27 | NC_037354.1 (16294235..16313378) | F11 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 713 | Holstein (black and white) (Cattle) Sahiwal (Cattle) | Factor XI deficiency | F11 | insertion, gross (>20) | Naturally occurring variant | 27 | a 76-bp insertion in exon 12 of the Factor XI gene 200922: g. and c. info moved here (g.15367048; c.1406ins76) until can be standardised | 2004 | 15566468 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 | ||||||
| 591 | Japanese Black, Japan (Cattle) Sahiwal (Cattle) | Factor XI deficiency | F11 | delins, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 27 | g.16305660delinsATATGTGCAGAATATA | c.870delinsATATGTGCAGAATATA | P.(F290delinsLYVQNI) | rs5334474726 | 2005 | 16104386 | Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170). The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000363-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Matsumoto, H., Kimura, S., Saito, R., Takeichi, M., Kashimura, A., Inenaga, T. : |
| Causative alleles for chondrodysplastic dwarfism, factor XI deficiency, and factor XIII deficiency in the Kumamoto sub-breed of Japanese Brown cattle. Anim Sci J 94:e13882, 2023. Pubmed reference: 37909240. DOI: 10.1111/asj.13882. | |
| 2021 | Kimura, S., Kurihara, T., Inoue, A., Imai, S., Kashimura, A., Matsumoto, H. : |
| Elucidating genetic characteristics of the Kumamoto sub-breed of Japanese Brown cattle with DNA markers for economically important traits. The Journal of Animal Genetics 49:59–65, 2021. DOI: doi.org/10.5924/abgri.49.59. | |
| 2016 | Mondal, K., Chakravarti, S., Ghosh, A.K., Kumar, S., Nayak, B., Nandi, S., Sarkar, U., Deb, R., De, A., Biswas, J. : |
| Novel identification of Factor XI deficiency in Indian Sahiwal (Bos indicus) cattle. Mol Biol Rep 43:213-9, 2016. Pubmed reference: 26892783. DOI: 10.1007/s11033-016-3955-5. | |
| 2012 | Akyuz, B., Sariozkan, S., Bayram, D. : |
| Factor XI mutation in normally fertile and repeat breeding Holstein cows in the Middle Anatolian region of Turkey: a financial approach Animal Production Science 52:1042-1045, 2012. DOI: 10.1071/AN12072. | |
| 2011 | Krappmann, K., Weikard, R., Gerst, S., Wolf, C., Kühn, C.h. : |
| A genetic predisposition for bovine neonatal pancytopenia is not due to mutations in coagulation factor XI. Vet J 190:225-9, 2011. Pubmed reference: 21087874. DOI: 10.1016/j.tvjl.2010.10.007. | |
| 2010 | Meydan, H., Yildiz, MA., Agerholm, JS. : |
| Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand 52:56, 2010. Pubmed reference: 20929557. DOI: 10.1186/1751-0147-52-56. | |
| 2009 | Ghanem, ME., Nishibori, M. : |
| Genetic Description of Factor XI Deficiency in Holstein Semen in Western Japan. Reprod Domest Anim 44:792-796, 2009. Pubmed reference: 18992095. DOI: 10.1111/j.1439-0531.2008.01080.x. | |
| Gurgul, A., Rubis, D., Slota, E. : | |
| Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle. J Appl Genet 50:149-52, 2009. Pubmed reference: 19433912. DOI: 10.1007/BF03195666. | |
| Meydan, H., Yildiz, MA., Ozdil, F., Gedik, Y., Ozbeyaz, C. : | |
| Identification of factor XI deficiency in Holstein cattle in Turkey. Acta Vet Scand 51:5, 2009. Pubmed reference: 19161609. DOI: 10.1186/1751-0147-51-5. | |
| Renné, T., Oschatz, C., Seifert, S., Müller, F., Antovic, J., Karlman, M., Benz, P.M. : | |
| Factor XI deficiency in animal models. J Thromb Haemost 7 Suppl 1:79-83, 2009. Pubmed reference: 19630774. DOI: 10.1111/j.1538-7836.2009.03393.x. | |
| 2008 | Ohba, Y., Takasu, M., Nishii, N., Takeda, E., Maeda, S., Kunieda, T., Kitagawa, H. : |
| Pedigree analysis of factor XI deficiency in Japanese black cattle. J Vet Med Sci 70:297-9, 2008. Pubmed reference: 18388432. | |
| 2006 | Mukhopadhyaya, PN., Jha, M., Muraleedharan, P., Gupta, RR., Rathod, RN., Mehta, HH., Khoda, VK. : |
| Simulation of normal, carrier and affected controls for large-scale genotyping of cattle for factor XI deficiency. Genet Mol Res 5:323-32, 2006. Pubmed reference: 16819712. | |
| Watanabe, D., Hirano, T., Sugimoto, Y., Ogata, Y., Abe, S., Ando, T., Ohtsuka, H., Kunieda, T., Kawamura, S. : | |
| Carrier rate of Factor XI deficiency in stunted Japanese black cattle. J Vet Med Sci 68:1251-5, 2006. Pubmed reference: 17213692. | |
| 2005 | Ghanem, ME., Nishibori, M., Nakao, T., Moriyoshi, M. : |
| DNA extraction from bovine mummified fetuses and detection of factor XI gene deficiency in the mummies. J Reprod Dev 51:347-52, 2005. Pubmed reference: 15785014. | |
| Ghanem, ME., Nishibori, M., Nakao, T., Nakatani, K., Akita, M. : | |
| Factor XI mutation in a Holstein cow with repeat breeding in Japan. J Vet Med Sci 67:713-5, 2005. Pubmed reference: 16082120. | |
| Kunieda, M., Tsuji, T., Abbasi, AR., Khalaj, M., Ikeda, M., Miyadera, K., Ogawa, H., Kunieda, T. : | |
| An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle. Mamm Genome 16:383-9, 2005. Pubmed reference: 16104386. DOI: 10.1007/s00335-004-2462-5. | |
| 2004 | Marron, BM., Robinson, JL., Gentry, PA., Beever, JE. : |
| Identification of a mutation associated with factor XI deficiency in Holstein cattle. Anim Genet 35:454-6, 2004. Pubmed reference: 15566468. DOI: 10.1111/j.1365-2052.2004.01202.x. | |
| 2000 | Haton, B.M., Robinson, J.L., Beever, J.E. : |
| Identification of the mutation responsible for factor XI deficiency in Holstein cattle Plant and Animal Genome (PAG) VIII :Abstract P375, 2000. | |
| 1998 | Robinson, J.L., Beever, J.E., Deleeuw, N., Lewin, H.A., Gillings, M., Dennis, J.A., Healy, P.J. : |
| Characterization of the 3' end of the gene for bovine factor XI Journal of Dairy Science 81:539-543, 1998. Pubmed reference: 9532508. DOI: 10.3168/jds.S0022-0302(98)75605-X. | |
| 1997 | Coomber, B.L., Galligan, C.L., Gentry, P.A. : |
| Comparison of in vitro function of neutrophils from cattle deficient in plasma factor XI activity and from normal animals Veterinary Immunology & Immunopathology 58:121-131, 1997. | |
| 1995 | Liptrap, R.M., Gentry, P.A., Ross, M.L., Cummings, E. : |
| Preliminary findings of altered follicular activity in Holstein cows with coagulation factor XI deficiency Veterinary Research Communications 19:463-471, 1995. Pubmed reference: 8619284. | |
| 1994 | Gentry, P.A., Ross, M.L. : |
| Coagulation factor XI deficiency in Holstein cattle: Expression and distribution of factor XI activity Canadian Journal of Veterinary Research - Revue Canadienne de Recherche Veterinaire 58:242-247, 1994. Pubmed reference: 7889454. | |
| 1993 | Healy, P.J., Dennis, J.A. : |
| Inherited Enzyme Deficiencies in Livestock Veterinary Clinics of North America - Food Animal Practice 9:55-63, 1993. Pubmed reference: 8457930. | |
| 1990 | Hase, S., Nishimura, H., Kawabata, S.I., Iwanaga, S., Ikenaka, T. : |
| The Structure of (Xylose)2Glucose-O-Serine 53 Found in the 1st Epidermal Growth Factor-Like Domain of Bovine Blood Clotting Factor-IX Journal of Biological Chemistry 265:1858-1861, 1990. Pubmed reference: 2105311. | |
| 1988 | Brush, P.J., Gentry, P.A. : |
| Bovine factor XI deficiency: relationship between heterozygotes in Canada and Britain Veterinary record 122:134 only, 1988. Pubmed reference: 3369063. | |
| 1987 | Brush, P.J., Anderson, P.H., Gunning, R.F. : |
| Identification of factor XI deficiency in Holstein-Friesian cattle in Britain Veterinary Record 121:14-17, 1987. Pubmed reference: 3629878. | |
| Gentry, P.A., Brush, P.J. : | |
| Factor XI deficiency in Canadian Holsteins Canadian Veterinary Journal 28:110 only, 1987. | |
| 1986 | Gentry, P.A., Ross, M.L. : |
| Failure of routine coagulation screening tests to detect heterozygous state of bovine Factor XI deficiency Veterinary Clinical Pathology 15:12-16, 1986. Pubmed reference: 15221705. | |
| 1980 | Gentry, P.A., Black, W.D. : |
| Prevalence and inheritance of factor XI (plasma thromboplastin antecedent) deficiency in cattle Journal of Dairy Science 63:616-620, 1980. Pubmed reference: 7381085. DOI: 10.3168/jds.S0022-0302(80)82980-8. | |
| 1975 | Gentry, P.A., Crane, S., Lotz, F. : |
| Factor XI (plasma thromboplastin antecedent) deficiency in cattle. Can Vet J 16:160-3, 1975. Pubmed reference: 1131792. | |
| 1969 | Kociba, G.J., Ratnoff, O.D., Loeb, W.F., Wall, R.L., Heider, L.E. : |
| Bovine plasma thromboplastin antecedent (Factor XI) deficiency. J Lab Clin Med 74:37-41, 1969. Pubmed reference: 5256172. |
Edit History
- Created by Mohammad Shariflou on 14 Nov 2006
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 03 Oct 2012
- Changed by Frank Nicholas on 05 Jun 2013
- Changed by Frank Nicholas on 21 Jul 2017
- Changed by Frank Nicholas on 28 Jan 2018
- Changed by Frank Nicholas on 09 Sep 2021
- Changed by Imke Tammen2 on 23 May 2022