{"topic_id":"companion_species_health_omia_4921_ferret","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_omia_4921_ferret\ncategory: companion-species-health\ntitle: \"Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/ferret_omia_4921_4921.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 186\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_omia_4921_ferret/01_companion_species_health_omia_4921_ferret.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: \"Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000032/9669/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Mustela putorius furo (ferret)`\n- `Disorder: `\n- `Summary: He et al. (2022) \"Alpha-1 antitrypsin (AAT) deficiency (AATD) is the most common genetic cause and risk factor for chronic obstructive pulmonary disease, but the field lacks a large animal model that allows for longitudinal assessment of pulmonary function. ... AAT-knockout (AAT-KO) and PiZZ (E342K, the most common mutation in humans) ferrets were generated [He et al., 2018] and compared to matched controls ... In summary, AAT-KO and PiZZ ferrets model the progressive obstructive pulmonary disease seen in AAT-deficient patients and may serve as a platform for preclinical testing of therapeutics including gene therapy.\"`\n- `Defect: yes`\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 398298779 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 2018. Generation of alpha-1 antitrypsin knockout and PI*ZZ ferrets using Crispr/Cas9. A genetic model of emphysema. Ann Am Thorac Soc — PubMed:PMID30758999 | DOI:10.1513/AnnalsATS.201806-429MG — OMIA Phene_Article / Article\n- 2022. Ferret models of alpha-1 antitrypsin deficiency develop lung and liver disease. JCI Insight — PubMed:PMID35104244 | DOI:10.1172/jci.insight.143004 — OMIA Phene_Article / Article\n- 2022. Ferret systemic coronavirus in alpha-1 antitrypsin knockout ferrets. Comp Med — PubMed:PMID36104147 | DOI:10.30802/AALAS-CM-22-000035 — 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:613490 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:107400 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/30758999/","retrieved":"","ref":"PMID 30758999","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":633,"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."}