OMIA 000819-9615 : Prekallikrein deficiency in Canis lupus familiaris

In other species: horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 229000 (gene) , 612423 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KLKB1 kallikrein B, plasma (Fletcher factor) 1 Canis lupus familiaris 16 NC_051820.1 (46736876..46683089) KLKB1 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
74 Shih-Tzu Prekallikrein deficiency KLKB1 missense Naturally occurring variant CanFam3.1 16 g.44501415A>T c.988T>A p.(F330I) 2011 20736516 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2011 Okawa, T., Yanase, T., Shimokawa Miyama, T., Hiraoka, H., Baba, K., Tani, K., Okuda, M., Mizuno, T. :
Prekallikrein deficiency in a dog. J Vet Med Sci 73:107-11, 2011. Pubmed reference: 20736516.
1991 Otto, C.M., Dodds, W.J., Greene, C.E. :
Factor-XII and partial prekallikrein deficiencies in a dog with recurrent gastrointestinal hemorrhage. Journal of the American Veterinary Medical Association 198:129-131, 1991. Pubmed reference: 1995570.

Edit History


  • Created by Frank Nicholas on 26 Oct 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 27 Aug 2016