--- license: permission_granted topic_id: companion_breed_health_shetland_sheepdog_omia2998_dog category: companion-breed-health title: "Shetland Sheepdog — Gallbladder mucoceles (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/shetland_sheepdog_omia2998_2998.txt date_parsed: 2026-08-02 tokens_estimated: 534 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_shetland_sheepdog_omia2998_dog/01_companion_breed_health_shetland_sheepdog_omia2998_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Shetland Sheepdog — Gallbladder mucoceles (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001524/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Shetland Sheepdog — Gallbladder mucoceles (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Shetland Sheepdog (Dog)Disorder:Mode of inheritance: Mealey et al. (2010) initially proposed a dominant mode of inheritance with incomplete penetrance in Shetland Sheepdogs, based on the incomplete association between a proposed likely causal variant and disease phenotype. The authors acknowledged that further research is required. In a follow up study by Cullen et al. (2014) a multifactorial mode of inheritance as well as non-inherited etiology are discussed.Clin feat: GBM is an extrahepatic disease characterised by abnormal, intraluminal accumulation of mucus or thickened bile within the gallbladder. GBM commonly predisposes the animal to secondary gallbladder rupture, systemic infection, and extrahepatic biliary duct obstruction. Therefore, serum biochemistry often shows increased liver enzymes (AST, ALT) indicative of liver damage, hyperbilirubinemia, and leucocytosis in haematology. Common non-specific clinical signs include vomiting, lethargy, abdominal pain, anorexia, icterus, tachypnoea, polyuria-polydipsia, pyrexia, diarrhoea, and abdominal distention (Smalle, Cahalane Köster, 2015). Chronic GBM progressing to ruptured gallbladders often present with more severe clinical signs of marked abdominal pain, jaundice, and pyrexia (Jaffey et al., 2019). [IT thanks DVM student Jonathan Haw Cherng Chee, who provided the basis of this contribution in April 2022]Defect: yesPathology: Distended gallbladder filled with mucus or bile is commonly the gross pathological findings of GBM. On the thickened inner mucosal surface of the gallbladder, GBM often presents as diffused, abundant, variably sized cystic structures filled with copious amounts of tenacious viscoelastic mucin. Histopathologically, hyperplastic tall columnar epithelial cells with abundant apical cytoplasmic mucus interspersed with scants amounts of bile within the gallbladder wall and bile duct are common (Mealey et al., 2010). [IT thanks DVM student Jonathan Haw Cherng Chee, who provided the basis of this contribution in April 2022]
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 23857841 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2007. Gallbladder disease in Shetland Sheepdogs: 38 cases (1995-2005). J Am Vet Med Assoc — PubMed:PMID17605668 | DOI:10.2460/javma.231.1.79 — OMIA Phene_Article / Article
- 2004. Gallbladder mucocele in dogs: 30 cases (2000-2002). J Am Vet Med Assoc — PubMed:PMID15230443 | DOI:10.2460/javma.2004.224.1615 — OMIA Phene_Article / Article
- 2010. An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol — PubMed:PMID20598156 | DOI:10.1186/1476-5926-9-6 — OMIA Phene_Article / Article
- 2015. Gallbladder mucocoele: A review. J S Afr Vet Assoc — PubMed:PMID26824341 | DOI:10.4102/jsava.v86i1.1318 — OMIA Phene_Article / Article
- 2014. Lack of association of ABCB4 insertion mutation with gallbladder mucoceles in dogs. J Vet Diagn Invest — PubMed:PMID24760133 | DOI:10.1177/1040638714532099 — OMIA Phene_Article / Article
- 2019. Effect of clinical signs, endocrinopathies, timing of surgery, hyperlipidemia, and hyperbilirubinemia on outcome in dogs with gallbladder mucocele. Vet J — PubMed:PMID31492387 | DOI:10.1016/j.tvjl.2019.105350 — OMIA Phene_Article / Article
- 2004. Surgical management of gallbladder mucoceles in dogs: 22 cases (1999-2003). J Am Vet Med Assoc — PubMed:PMID15552319 | DOI:10.2460/javma.2004.225.1418 — OMIA Phene_Article / Article
- 2009. Gall bladder mucoceles and their association with endocrinopathies in dogs: a retrospective case-control study. J Small Anim Pract — PubMed:PMID19954439 | DOI:10.1111/j.1748-5827.2009.00811.x — OMIA Phene_Article / Article
- 2025. Diagnosis and management of gallbladder mucocele formation in dogs. J Am Vet Med Assoc — PubMed:PMID40107232 | DOI:10.2460/javma.24.12.0789 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:600803 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:171060 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."