OMIA:000363-9685 : Factor XI deficiency in Felis catus |
In other species: dog , cattle
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 264900 (gene) , 612416 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Inheritance: Genotypes for the V516M variant (OMIA variant 1472) and available pedigree information were consistent with autosomal recessive inheritance (Kuder et al., 2022).
Molecular basis: Kuder et al. (2022) discovered a "common missense variant FXI-V516M [that] causes a cross-reactive material positive FXI deficiency in MCCs [Maine Coon Cats] that is associated with mild-moderate bleeding tendencies".
Breed: Maine Coon (Cat) (VBO_0100154).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| F11 | coagulation factor XI | Felis catus | - | no genomic information (-..-) | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1472 | Maine Coon (Cat) | Factor XI deficiency | F11 | missense | Naturally occurring variant | Felis catus 9.0 | B1 | g.17176154G>A | c.1546G>A | p.(V516M) | XM_003984601.5; XP_003984650.2 | 2022 | 35627175 |
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.
| 2022 | Kuder, H., Dickeson, S.K., Brooks, M.B., Kehl, A., Müller, E., Gailani, D., Giger, U. : |
| A Common Missense Variant Causing Factor XI Deficiency and Increased Bleeding Tendency in Maine Coon Cats. Genes (Basel) 13:, 2022. Pubmed reference: 35627175 . DOI: 10.3390/genes13050792. | |
| 2002 | Troxel, M.T., Brooks, M.B., Esterline, M.L. : |
| Congenital factor XI deficiency in a domestic shorthair cat Journal of the American Animal Hospital Association 38:549-553, 2002. Pubmed reference: 12428887 . DOI: 10.5326/0380549. | |
| 1988 | Fogh, J.M., Fogh, I.T. : |
| Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382 . |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 05 Aug 2022