Ferret — Alpha-1-antitrypsin deficiency (hereditary; OMIA-verified species predisposition)
Source: 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.
Claims
Species: Mustela putorius furo (ferret)Disorder: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."Defect: yes
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 398298779 (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.
- 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
- 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
- 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
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:613490 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:107400 (type: gene) — OMIA Group_OMIM (via OMIA_ID)