OMIA 001524-9615 : Gallbladder mucoceles in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600803

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
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 Canis lupus familiaris 14 NC_006596.3 (13614334..13542610) ABCB4 Homologene, Ensembl, NCBI gene

Variants

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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
Shetland Sheepdog Gallbladder mucoceles ABCB4 insertion, small (<=20) c.1583_1584G 2010 20598156

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.
2015 Smalle, T.M., Cahalane, A.K., Köster, L.S. :
Gallbladder mucocoele: A review. J S Afr Vet Assoc 86:1318, 2015. Pubmed reference: 26824341.
2010 Mealey, KL., Minch, JD., White, SN., Snekvik, KR., Mattoon, JS. :
An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol 9:6, 2010. Pubmed reference: 20598156. DOI: 10.1186/1476-5926-9-6.
2007 Aguirre, AL., Center, SA., Randolph, JF., Yeager, AE., Keegan, AM., Harvey, HJ., Erb, HN. :
Gallbladder disease in Shetland Sheepdogs: 38 cases (1995-2005). J Am Vet Med Assoc 231:79-88, 2007. Pubmed reference: 17605668. DOI: 10.2460/javma.231.1.79.
2004 Pike, FS., Berg, J., King, NW., Penninck, DG., Webster, CR. :
Gallbladder mucocele in dogs: 30 cases (2000-2002). J Am Vet Med Assoc 224:1615-22, 2004. Pubmed reference: 15230443.

Edit History


  • Created by Frank Nicholas on 02 Nov 2010
  • Changed by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011