OMIA 001403-9615 : Pancreatitis, hereditary in Canis lupus familiaris

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPINK1 serine peptidase inhibitor, Kazal type 1 Canis lupus familiaris 2 NC_006584.3 (42120738..42112015) SPINK1 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 required column headers

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
Miniature Schnauzer Pancreatitis, hereditary SPINK1 complex rearrangement a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11) 2010 20433378

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.
2010 Bishop, MA., Xenoulis, PG., Levinski, MD., Suchodolski, JS., Steiner, JM. :
Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers. Am J Vet Res 71:527-33, 2010. Pubmed reference: 20433378. DOI: 10.2460/ajvr.71.5.527.
2009 Chase, K., Jones, P., Martin, A., Ostrander, EA., Lark, KG. :
Genetic Mapping of Fixed Phenotypes: Disease Frequency as a Breed Characteristic. J Hered :, 2009. Pubmed reference: 19321632. DOI: 10.1093/jhered/esp011.
2004 Bishop, MA., Steiner, JM., Moore, LE., Williams, DA. :
Evaluation of the cationic trypsinogen gene for potential mutations in miniature schnauzers with pancreatitis. Can J Vet Res 68:315-8, 2004. Pubmed reference: 15581228.

Edit History


  • Created by Frank Nicholas on 03 Nov 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011