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) (MIM number):
264900
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_006598.3 (44492833..44469609) | F11 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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) | "a short interspersed nucleotide element (SINE) insertion" | 2006 | Reference not in PubMed; see OMIA 000363-9615 for reference details |
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