
Testing of cats: Factor XI deficiency
Related tests
- Combination Maine Coon Polydactyl HCM + Factor XI deficiency + Factor XII deficiency + PK deficiency + SMA + Cystinuria, type B + Blood Group DNA test + Polydactyly
- Combination Maine Coons HCM + Factor XI deficiency + Factor XII deficiency + PK deficiency + SMA + Cystinuria, type B + Blood Group DNA test
Factor XI deficiency in the Maine Coon cat
Factor XI is one of the precipitating factors of the coagulation cascade. Its reduced level and activity are manifested by impaired blood clotting. Affected cats exhibit abnormal bleeding (e.g., from the nose or gums), anaemia, development of hematomas without obvious trauma, and excessive bleeding during medical procedures (surgery).
The disease is caused by a missense mutation c.1546G>A in the F11 gene.
The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.
The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected kittens.
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References:
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) 13:792, 2022. Pubmed reference: 35627175.