{"topic_id":"companion_breed_health_akita_omia4164_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_akita_omia4164_dog\ncategory: companion-breed-health\ntitle: \"Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/akita_omia4164_4164.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 304\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_akita_omia4164_dog/01_companion_breed_health_akita_omia4164_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002177/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Akita (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Defect: yes`\n- `Prevalence: Hytönen et al. (2019) : To evaluate the segregation pattern, we genotyped the variant by Sanger sequencing in a cohort of 159 Akitas including 6 affected dogs and 153 control samples from our biobank. All affected dogs were homozygous for the variant. Among the control population, we found two dogs, littermates, that were homozygous for the variant and the rest were either heterozygous (n = 36) or homozygous (n = 115) for the wild-type allele (Fig. 4). We also screened the variant in a cohort containing samples from 78 dogs from three-related breeds, including American Akitas (n = 197), Alaskan Malamutes (n = 36), Kai (n = 9) and Hokkaido (n = 3). The screening revealed one homozygote and 44 heterozygotes in American Akitas and no variants in other breeds. The two Akitas and one American Akita that were homozygous for the variant were confirmed to be affected by AI. The carrier frequency was calculated to be 22% in both Akitas and American Akitas. In summary, the ACP4 variant fully segregated with AI in the studied breeds.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388250633 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Hytönen et al. (2019) reported a likely causal variant of this disorder in Akita and American Akita: \"A 1-bp insertion in ACP4 [=ACPT] (c.1189dupG) is predicted to lead to a frameshift, p.(Ala397Glyfs), resulting in an abnormal C-terminal part of the protein, and hypoplastic AI [amelogenesis imperfecta]\".\n\n## Evidence (references)\nDerived 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.\n- 2019. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet — PubMed:PMID30877375 | DOI:10.1007/s00439-019-01997-8 — OMIA Phene_Article / Article\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:617297 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606362 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/30877375/","retrieved":"","ref":"PMID 30877375","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":793,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}