OMIA:000032-9669 : Alpha-1-antitrypsin deficiency in Mustela putorius furo (domestic ferret) |
In other species: crab-eating macaque , dog
Categories: Respiratory system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613490 (trait) , 107400 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: 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).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
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
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000032-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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. |
Edit History
- Created by Imke Tammen2 on 12 Feb 2022
- Changed by Imke Tammen2 on 12 Feb 2022
- Changed by Imke Tammen2 on 29 Nov 2022
- Changed by Imke Tammen2 on 10 Dec 2023