OMIA:001794-9669 : Cystic fibrosis in Mustela putorius furo

In other species: pig , sheep

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


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