Factor XI Deficiency

 

Gene: F11

Transmission: Autosomal recessive (variable penetration)

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutations:
Holstein, Sahiwal mutation: Insertion, F11 ; c.1406ins76, exon 12, bovine chromosome 27.
Japanese Black mutation: Insertion et deletion, F11 ; c.870delins 16bp (insertion), 1bp (deletion), exon 9, bovine chromosome 27.

Breed: Holstein, Sahiwal, Japanese Black

Medical systems: Blood

Age of onset of symptoms: symptoms can be evident soon after birth.

Factor XI (FII) deficiency in cows is a genetic disease causing a mutation in the FXI protein. This protein plays a role in the intrinsic coagulation cascade, which ultimately leads to clot formation during a hemorrhage. Affected animals do not always show clinical signs. When clinical signs are present, they may include prolonged bleeding time (e.g. from a cut), production of blood-stained milk or anemia.

Both heterozygotes (with one copy of the mutated gene) and homozygotes (with two copies of the mutated gene) may have lower reproductive performance, increased susceptibility to infectious diseases and poorer udder health. According to a study reported in 2004, the allelic frequency of this mutation was 1.2% in U.S. Holstein cattle.  DNA testing has effectively eliminated this mutation from bovine genetics.

 

References:

OMIA link : [0363-9913]

Mondal K, Chakravarti S, Ghosh AK. (2016) Novel identification of Factor XI deficiency in Indian Sahiwal (Bos indicus) cattle. Mol Biol Rep 43:213-9.  [pubmed/26892783]

Gurgul A, Rubis D, Slota E. (2009) Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle. J Appl Genet. 50(2):149-52. [pubmed/19433912]

Kunieda M, Tsuji T, Abbasi AR, Khalaj M. (2005) An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle. Mamm Genome 16:383-9. [pubmed/16104386]

Marron BM, Robinson JL, Gentry PA, Beever JE. (2004) Identification of a mutation associated with factor XI deficiency in Holstein cattle. Anim Genet 35:454-6. [pubmed/15566468]

Haton BM, Robinson JL, Beever JE. (2000) Identification of the mutation responsible for factor XI deficiency in Holstein cattle. Plant and Animal Genome (PAG) VIII: Abstract P375.

 

Contributed by Dr. Anaïs Fournier-Leclaire, Class of 2023, Faculté de médecine vétérinaire, Université de Montréal.   (Translation DWS).