OMIA 000032-9669 : Alpha-1-antitrypsin deficiency in Mustela putorius furo

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613490 (trait) , 107400 (gene)

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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SERPINA1 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1 Mustela putorius furo - no genomic information (-..-) SERPINA1 Ensembl


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.
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