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OMIA 000363-9615 : Factor XI deficiency in Canis lupus familiaris

In other species: cattle , domestic cat

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

Molecular basis: A molecular basis for this disorder was first reported by Tcherneva et al. (2006): "The first non-coding and 10 of the 14 coding exons of the sequenced canine FXI gene were identical between the normal KBTs’ DNA and the published canine genome sequence. However, the seventh coding exon differs between normal and affected animals. It is normally 110 bp long, but in affected KBTs it contains a short interspersed nucleotide element (SINE) insertion. This exonic SINE is 90 bp long, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of the FXI gene."

Breed: Kerry Blue Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
F11 coagulation factor XI Canis lupus familiaris 16 NC_051820.1 (46700923..46683089) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Kerry Blue Terrier Factor XI deficiency F11 insertion, gross (>20) 16 "a short interspersed nucleotide element (SINE) insertion" 2006 Reference not in PubMed; see OMIA 000363-9615 for reference details
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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.
2006 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 only, 2006.
1994 Knowler, C., Giger, U., Dodds, W.J., Brooks, M. :
Factor XI deficiency in Kerry Blue Terriers Journal of the American Veterinary Medical Association 205:1557-1561, 1994. Pubmed reference: 7730123.
1988 Fogh, J.M., Fogh, I.T. :
Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382.
1974 Dodds, W.J. :
Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb 2:215-47, 1974. Pubmed reference: 4604529.
1971 Dodds, W.J., Kull, J.E. :
Canine factor XI (plasma thromboplastin antecedent) deficiency. J Lab Clin Med 78:746-52, 1971. Pubmed reference: 5166932.

Edit History


  • Created by Frank Nicholas on 14 Jul 2006
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 21 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011