--- license: permission_granted topic_id: companion_breed_health_harrier_omia2648_dog category: companion-breed-health title: "Harrier — Hypocatalasia (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/harrier_omia2648_2648.txt date_parsed: 2026-08-02 tokens_estimated: 417 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_harrier_omia2648_dog/01_companion_breed_health_harrier_omia2648_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: "Harrier — Hypocatalasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001138/9615/" 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
Harrier — Hypocatalasia (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: Harrier (Dog)Disorder:Mode of inheritance: AutosomalClin feat: Catalase is an enzyme responsible for breaking down reactive oxygen species. As there are other enzymes able to fulfil this role, hypocatalasia often has no clinical signs. Hypocatalasia has been associated with ulcers of the oral cavity leading to gangrene, a condition known as “Takahara disease” in humans (Fukuda et al., 1982). The pathogenesis of this disease is explained by some oral bacteria producing hydrogen peroxide, which is unable to be decomposed due to catalase deficiency (Ogata et al. 2008). IT thanks DVM student Joumana Quinn, who provided the basis of this contribution in May 2023.Defect: yesPrevalence: Noting that the original discovery of the likely causal variant (c.979GA; p.Ala327Thr) was in a Beagle colony, Donner et al. (2016) reported that To our knowledge, presence and manifestation of acatalasemia due to the aforementioned CAT variant has not been previously documented in the pet Beagle population. We therefore note that we identified pet Beagle carriers, and a tenmonth-old mutant homozygous Beagle through panel screening. During this investigation, the genetically affected Beagle developed gangrene of the oral cavity leading to the removal of three teeth at the age of eighteen months, which could be a manifestation of acatalasemia. Donner et al. (2016, 2018) reported additional breeds in which the c.979GA; p.Ala327Thr variant was present: American Foxhound (n=1), English Foxhound (n=1), Harrier 9 (n=6), Miniature Poodle (n=1), Treeing Walker Coonhound (n=2).
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 403474 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By cloning and sequencing a very likely candidate gene (based on knowledge of the biochemical and physiological properties of the enzyme catalase in affected dogs), Nakamura et al. (2000) reported that the canine disorder in Beagles is due to a missense mutation [in the catalase gene (CAT),] leading to the substitution of alanine(327) (GCT) by threonine (ACT)".
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.
- 2000. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. International Journal of Biochemistry & Cell Biology — PubMed:PMID11137458 — OMIA Phene_Article / Article
- 1967. The dog as an example of acatalasemia or hypocatalasemia. ANL-7409. ANL Rep — PubMed:PMID5308206 — OMIA Phene_Article / Article
- 2000. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol — PubMed:PMID10661897 — OMIA Phene_Article / Article
- 1999. Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim — PubMed:PMID10591001 — OMIA Phene_Article / Article
- 2008. Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama — PubMed:PMID19122680 — OMIA Phene_Article / Article
- 2016. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One — PubMed:PMID27525650 | DOI:10.1371/journal.pone.0161005 — OMIA Phene_Article / Article
- 1982. Catalase activity of erythrocytes from beagle dog: an appearance of hereditary acatalasemia. Acta Histochem. Cytochem. — OMIA Phene_Article / Article
- 2018. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet — PubMed:PMID29708978 | DOI:10.1371/journal.pgen.1007361 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:614097 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:115500 (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."