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
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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