OMIA:000032-9669 : Alpha-1-antitrypsin deficiency in Mustela putorius furo (domestic ferret)
In other species: dog
Categories: Respiratory system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Species-specific description: 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."
This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SERPINA1||SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1||Mustela putorius furo||NW_025421290.1 (43550041..43539480)||SERPINA1||Homologene, Ensembl , NCBI gene|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2022||He, N., Liu, X., Vegter, A.R., Evans, T.I.A., Gray, J.S., Guo, J., Moll, S.R., Guo, L.J., Luo, M., Ma, N., Sun, X., Liang, B., Yan, Z., Feng, Z., Qi, L., Joshi, A.S., Shahin, W., Yi, Y., Gibson-Corley, K.N., Hoffman, E.A., Wang, K., Mueller, C., Engelhardt, J.F., Rosen, B.H. :|
|Ferret models of alpha-1 antitrypsin deficiency develop lung and liver disease. JCI Insight 7:e143004, 2022. Pubmed reference: 35104244. DOI: 10.1172/jci.insight.143004.|
|Osborne, A.J., Hussain, S.S., Helman, E.E., Foote, J.B., Kiupel, M., Rowe, S.M., Collins, D.E. :|
|Ferret systemic coronavirus in alpha-1 antitrypsin knockout ferrets. Comp Med 72:410-415, 2022. Pubmed reference: 36104147. DOI: 10.30802/AALAS-CM-22-000035.|
|2018||He, N., Rosen, B.H., Gray, J.S., Evans, I.A., Zieger, M., Yan, Z., Borel, F., Liang, B., Sun, X., Moll, S.R., Brodsky, M.H., Mueller, C., Engelhardt, J.F. :|
|Generation of alpha-1 antitrypsin knockout and PI*ZZ ferrets using Crispr/Cas9. A genetic model of emphysema. Ann Am Thorac Soc 15:S292-S293, 2018. Pubmed reference: 30758999. DOI: 10.1513/AnnalsATS.201806-429MG.|
- Created by Imke Tammen2 on 12 Feb 2022
- Changed by Imke Tammen2 on 12 Feb 2022
- Changed by Imke Tammen2 on 29 Nov 2022