OMIA 000363-9685 : Factor XI deficiency in Felis catus

In other species: dog , cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 264900 (gene) , 612416 (trait)

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.

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

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
1472 Maine Coon 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