Breeds Affected: Kerry Blue Terrier
Samples Accepted: Blood, Buccal Swabs
Disease Information: This bleeding disorder is caused by a mutation in the F11 gene. There may be mild episodes of spontaneous bleeding, or more severe postoperative bleeding, often 12-24 hours after the surgery.
Inheritance Information: Factor XI deficiency is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce Factor XI deficient offspring.
N/fXI The dog is a carrier for Factor XI deficiency, and can pass the allele on to approximately 50% of any offspring. If bred to another N/fXI carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
fXI/fXI The dog is affected with Factor XI deficiency. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/fXI carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/fXI x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/fXI x N/fXI) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (fXI/fXI) should not be used for breeding.
Test Information: This mutation test identifies a SINE insertion mutation in the F11 gene.
Tcherneva, E., Huff, A. M., Giger, U.: Coagulation factor XI deficiency in Kerry blue terrier dogs is caused by an exonic sine insertion Journal of Veterinary Internal Medicine 20:767, 2006.
Further information is available at the Online Mendelian Inheritance in Animals website.