OMIA:001818-9913 : Factor XIII deficiency, F13A1-related in Bos taurus
Categories: Haematopoietic system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1996
Molecular basis: Shibutani et al. (2023) list a causal variant for F13 deficiency in Japanese Black cattle in the F13A1 gene as BTA23:g.48649432T>C, c.248T>C; p.F83S based on the publication by Ogawa and Iga (1996).
Breed: Japanese Black, Japan (Cattle) (VBO_0004987).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|F13A1||coagulation factor XIII A chain||Bos taurus||23||NC_037350.1 (48770276..48913854)||F13A1||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1532||Japanese Black, Japan (Cattle)||Factor XIII deficiency||F13A1||missense||Naturally occurring variant||UMD_3.1.1||23||g.48649432T>C||c.248T>C||p.(F83S)||NM_001167894.1; NP_001161366.1||1996||Reference not in PubMed; see OMIA 001818-9913 for reference details||Variant was first reported by Ogawa and Iga (1996). Variant information in this table is based on supplementary table 1 by Shibutani et al. (2023).|
Cite this entry
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||Shibutani, S., Endo, M., Mizukami, K., Hosoi, E., Sakai, Y., Taniguchi, M., Harada, H., Momozawa, Y., Iwata, H. :|
|Development of a high-throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle. Anim Genet 54:416-417, 2023. Pubmed reference: 36785519 . DOI: 10.1111/age.13301.|
|1996||Ogawa, H., Iga, Y. :|
|[Factor XIII deficiency in Japanese Black cattle.] Jui-chikusan-shinpo [J Vet Med] 49:411-412, 1996.|
- Created by Frank Nicholas on 05 Jun 2013
- Changed by Frank Nicholas on 05 Jun 2013
- Changed by Imke Tammen2 on 17 Feb 2023
- Changed by Imke Tammen2 on 06 Mar 2023