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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 167800 (trait) , 608189 (trait) , 167790 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Mapping: Bishop and Xenoulis (2010) "Analysis of the SPINK1 gene in Miniature Schnauzers revealed 3 closely associated variants in healthy Miniature Schnauzers and Miniature Schnauzers with pancreatitis. These variants consisted of 2 missense mutations in the second exon (N20K and N25T) and a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26–27ins(T)33–39,15_61dup11). ... All 3 variants were always detected together in healthy Miniature Schnauzers and in Miniature Schnauzers with pancreatitis. .... Pancreatitis was significantly associated with homozygous alleles for these 3 variants in Miniature Schnauzers." The authors did not claim that the variants were causal and the intronic variant that was previously listed in the likely causal variant table in OMIA has therefore been removed from the table [26/1/2022].

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_051806.1 (42575135..42566457) SPINK1 Homologene, Ensembl, NCBI gene

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 100 Suppl 1:S37-41, 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
  • Changed by Imke Tammen2 on 26 Jan 2022