OMIA:001794-9669 : Cystic fibrosis in Mustela putorius furo |
Categories: Digestive / alimentary phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 219700 (trait) , 602421 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: no
Species-specific description: Genetically-modifed organism; GMO.
This entry describes a ferret model of cystic fibrosis created by Sun et al. (2008) via somatic cell gene targeting of the CFTR gene (encoding cystic fibrosis transmembrane conductance regulator) followed by nuclear transfer to produce cloned mutant ferrets.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | Mustela putorius furo | NW_025421998.1 (74378912..74547852) | CFTR | Homologene, Ensembl , NCBI gene |
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 | Yan, Z., Vorhies, K., Feng, Z., Park, S.Y., Choi, S.H., Zhang, Y., Winter, M., Sun, X., Engelhardt, J.F. : |
| Recombinant adeno-associated virus-mediated editing of the G551D cystic fibrosis transmembrane conductance regulator mutation in ferret airway basal cells. Hum Gene Ther 33:1023-1036, 2022. Pubmed reference: 35686451 . DOI: 10.1089/hum.2022.036. | |
| 2020 | Leenaars, C.H., De Vries, R.B., Heming, A., Visser, D., Holthaus, D., Reijmer, J., Elzinga, J., Kempkes, R.W., Punt, C., Beumer, W., Meijboom, F.L., Ritskes-Hoitinga, M. : |
| Animal models for cystic fibrosis: A systematic search and mapping review of the literature - Part 1: genetic models. Lab Anim 54:330-340, 2020. Pubmed reference: 31411127 . DOI: 10.1177/0023677219868502. | |
| 2019 | Sun, X., Yi, Y., Yan, Z., Rosen, B.H., Liang, B., Winter, M.C., Evans, T.I.A., Rotti, P.G., Yang, Y., Gray, J.S., Park, S.Y., Zhou, W., Zhang, Y., Moll, S.R., Woody, L., Tran, D.M., Jiang, L., Vonk, A.M., Beekman, J.M., Negulescu, P., Van Goor, F., Fiorino, D.F., Gibson-Corley, K.N., Engelhardt, J.F. : |
| In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis. Sci Transl Med 11:eaau7531, 2019. Pubmed reference: 30918114 . DOI: 10.1126/scitranslmed.aau7531. | |
| 2013 | Fisher, J.T., Tyler, S.R., Zhang, Y., Lee, B.J., Liu, X., Sun, X., Sui, H., Liang, B., Luo, M., Xie, W., Yi, Y., Zhou, W., Song, Y., Keiser, N., Wang, K., de Jonge, H.R., Engelhardt, J.F. : |
| Bioelectric characterization of epithelia from neonatal CFTR knockout ferrets. Am J Respir Cell Mol Biol 49:837-44, 2013. Pubmed reference: 23782101 . DOI: 10.1165/rcmb.2012-0433OC. | |
| 2012 | Olivier, A.K., Yi, Y., Sun, X., Sui, H., Liang, B., Hu, S., Xie, W., Fisher, J.T., Keiser, N.W., Lei, D., Zhou, W., Yan, Z., Li, G., Evans, T.I., Meyerholz, D.K., Wang, K., Stewart, Z.A., Norris, A.W., Engelhardt, J.F. : |
| Abnormal endocrine pancreas function at birth in cystic fibrosis ferrets. J Clin Invest 122:3755-68, 2012. Pubmed reference: 22996690 . DOI: 10.1172/JCI60610. | |
| 2011 | Fisher, J.T., Zhang, Y., Engelhardt, J.F. : |
| Comparative biology of cystic fibrosis animal models. Methods Mol Biol 742:311-34, 2011. Pubmed reference: 21547741 . DOI: 10.1007/978-1-61779-120-8_19. | |
| Keiser, N.W., Engelhardt, J.F. : | |
| New animal models of cystic fibrosis: what are they teaching us? Curr Opin Pulm Med 17:478-83, 2011. Pubmed reference: 21857224 . DOI: 10.1097/MCP.0b013e32834b14c9. | |
| 2010 | Sun, X., Sui, H., Fisher, J.T., Yan, Z., Liu, X., Cho, H.J., Joo, N.S., Zhang, Y., Zhou, W., Yi, Y., Kinyon, J.M., Lei-Butters, D.C., Griffin, M.A., Naumann, P., Luo, M., Ascher, J., Wang, K., Frana, T., Wine, J.J., Meyerholz, D.K., Engelhardt, J.F. : |
| Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis. J Clin Invest 120:3149-60, 2010. Pubmed reference: 20739752 . DOI: 10.1172/JCI43052. | |
| Widdicombe, J.H. : | |
| Transgenic animals may help resolve a sticky situation in cystic fibrosis. J Clin Invest 120:3093-6, 2010. Pubmed reference: 20739746 . DOI: 10.1172/JCI44235. | |
| 2008 | Sun, X., Yan, Z., Yi, Y., Li, Z., Lei, D., Rogers, C.S., Chen, J., Zhang, Y., Welsh, M.J., Leno, G.H., Engelhardt, J.F. : |
| Adeno-associated virus-targeted disruption of the CFTR gene in cloned ferrets. J Clin Invest 118:1578-83, 2008. Pubmed reference: 18324338 . DOI: 10.1172/JCI34599. | |
| 2003 | Li, Z., Engelhardt, J.F. : |
| Progress toward generating a ferret model of cystic fibrosis by somatic cell nuclear transfer. Reprod Biol Endocrinol 1:83, 2003. Pubmed reference: 14613541 . DOI: 10.1186/1477-7827-1-83. |
Edit History
- Changed by Frank Nicholas on 01 May 2013
- Created by Frank Nicholas on 01 May 2013
- Changed by Frank Nicholas on 29 Sep 2016
- Changed by Imke Tammen2 on 13 Jan 2023