OMIA:001403-9615 : Pancreatitis, hereditary in Canis lupus familiaris
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 167800 (trait) , 608189 (trait) , 167790 (gene)
Links to MONDO diseases: No links.
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].
|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|
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 .|
- 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