OMIA 000032-9986 : Alpha-1-antitrypsin deficiency in Oryctolagus cuniculus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613490

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Emphysema

Species-specific description: This disorder in rabbits is the result of zygote gene editing, and hence the affected rabbits are genetically modified organisms (GMOs)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC100328621 alpha-1-antitrypsin Oryctolagus cuniculus - no genomic information (-..-) LOC100328621 Homologene, Ensembl, NCBI gene

Reference


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 Frank Nicholas on 27 Feb 2019