OMIA 000364-9685 : Factor XII deficiency in Felis catus |
By sequencing the most likely candidate gene in 6 Japanese domestic short-hair cats (2 cats with severely reduced FXII activity (7.1 % and 9.3 %, respectively) and 4 cats with moderately reduced FXII activity (range 36.0 to 46.3 %)), Maruyama et al. (2017) identified a new likely causal variant in exon 13 of the F12 gene: "Cats with severely reduced FXII activity were homozygous" for a missense mutation c.1631G>C, p.G544A; "Cats with moderately reduced FXII activity were heterozygous for this mutation". These authors also reported that "Expression studies revealed reduced secretion of p.G544A mutant FXII protein from transfected HEK293 cells compared with wild type FXII."
Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
F12 | coagulation factor XII (Hageman factor) | Felis catus | A1 | NC_058368.1 (172783544..172796093) | F12 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
533 | Factor XII deficiency | F12 | deletion, small (<=20) | Naturally occurring variant | Felis_catus_9.0 | A1 | g.175381114del | c.1321del | p.(L441Cfs*119) | NM_001168212.2; NP_001161684.2; published as c.1321delC | 2015 | 24793828 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||||
147 | Domestic Shorthair | Factor XII deficiency | F12 | missense | Naturally occurring variant | Felis_catus_9.0 | A1 | g.175382065G>C | c.1631G>C | p.(G544A) | NM_001168212.2; NP_001161684.2 | 2017 | 28392508 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. |
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.
2021 | Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. : | |
A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7. | ||
2019 | Maruyama, H., Brooks, M.B., Stablein, A., Frye, A., Maruyama, H., Brooks, M.B., Stablein, A., Frye, A. : | |
Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene 706:6-12, 2019. Pubmed reference: 31022435. DOI: 10.1016/j.gene.2019.04.053. | ||
2017 | Maruyama, H., Hosoe, H., Nagamatsu, K., Kano, R., Kamata, H. : | |
A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. J Vet Med Sci :, 2017. Pubmed reference: 28392508. DOI: 10.1292/jvms.16-0602. | ||
2015 | Bender, D.E., Kloos, M.T., Pontius, J.U., Hinsdale, M.E., Bellinger, D.A. : | |
Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Vet Pathol 52:312-20, 2015. Pubmed reference: 24793828. DOI: 10.1177/0300985814532821. | ||
2006 | Brooks, M., Dewilde, L. : | |
Feline factor XII deficiency. Compend. Contin. Educ. Pract. Vet. 28:148-156, 2006. | ||
1990 | Kier, A.B., Mcdonnell, J.J., Stern, A., Ratnoff, O.D. : | |
The Arthus Reaction in Cats Deficient in Hageman Factor (Factor-XII) Journal of Comparative Pathology 102:33-47, 1990. Pubmed reference: 2138171. | ||
1988 | Fogh, J.M., Fogh, I.T. : | |
Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382. | ||
Parker, M.T., Collier, L.L., Kier, A.B., Johnson, G.S. : | ||
Oral mucosa bleeding times of normal cats and cats with Chediak-Higashi syndrome or Hageman trait (Factor XII Deficiency). Vet Clin Pathol 17:9-12, 1988. Pubmed reference: 15162339. | ||
1980 | Kier, A.B., Bresnahan, J.F., White, F.J., Wagner, J.E. : | |
The inheritance pattern of factor XII (Hageman) deficiency in domestic cats. Can J Comp Med 44:309-14, 1980. Pubmed reference: 7427778. | ||
1977 | Green, R.A., White, F. : | |
Feline factor XII (Hageman) deficiency. Am J Vet Res 38:893-5, 1977. Pubmed reference: 879587. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 07 May 2014
- Changed by Frank Nicholas on 13 Apr 2017
- Changed by Imke Tammen2 on 17 Sep 2021