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OMIA:001818-9913 : Factor XIII deficiency, F13A1-related in Bos taurus

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613225 (trait) , 134570 (gene)

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).

Associated gene:

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

Variants

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
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).
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001818-9913: 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 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.

Edit History


  • 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