OMIA:001794-9669 : Cystic fibrosis in Mustela putorius furo (domestic ferret)

In other species: pig , sheep , rabbit

Categories: Digestive / alimentary phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 219700 (trait) , 602421 (gene)

Links to relevant human diseases in MONDO:

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 ferret models of cystic fibrosis. Sun et al. (2008) created the first of several ferret models via somatic cell gene targeting of the CFTR gene (encoding cystic fibrosis transmembrane conductance regulator) followed by nuclear transfer to produce cloned mutant ferrets.

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
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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001794-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Evans, I.A., Sun, X., Liang, B., Vegter, A.R., Guo, L., Lynch, T.J., Zhang, Y., Zhang, Y., Yi, Y., Yang, Y., Feng, Z., Park, S.Y., Shonka, A., McCumber, H., Qi, L., Wu, P., Liu, G., Lacina, A., Wang, K., Gibson-Corley, K.N., Meyerholz, D.K., Limoli, D.H., Rosen, B.H., Yan, Z., Bartels, D.J., Engelhardt, J.F. :
In utero and postnatal ivacaftor/lumacaftor therapy rescues multiorgan disease in CFTR-F508del ferrets. JCI Insight 9:e157229, 2024. Pubmed reference: 38646935. DOI: 10.1172/jci.insight.157229.
2023 Le Bras, A. :
Transgenic ferret models to study cystic fibrosis. Lab Anim (NY) 52:265, 2023. Pubmed reference: 37891344. DOI: 10.1038/s41684-023-01279-x.
Luo, M., Ma, J., Cheng, X., Wu, S., Bartels, D.J., Guay, D., Engelhardt, J.F., Liu, X. :
Genome editing in ferret airway epithelia mediated by CRISPR/nucleases delivered with amphiphilic shuttle peptides. Hum Gene Ther 34:705-718, 2023. Pubmed reference: 37335046. DOI: 10.1089/hum.2023.016.
Meyerholz, D.K., Leidinger, M.R., Adam Goeken, J., Businga, T.R., Vizuett, S., Akers, A., Evans, I., Zhang, Y., Engelhardt, J.F. :
Immunohistochemical detection of MUC5AC and MUC5B mucins in ferrets. BMC Res Notes 16:111, 2023. Pubmed reference: 37349833. DOI: 10.1186/s13104-023-06388-x.
Yuan, F., Gasser, G.N., Lemire, E., Montoro, D.T., Jagadeesh, K., Zhang, Y., Duan, Y., Ievlev, V., Wells, K.L., Rotti, P.G., Shahin, W., Winter, M., Rosen, B.H., Evans, I., Cai, Q., Yu, M., Walsh, S.A., Acevedo, M.R., Pandya, D.N., Akurathi, V., Dick, D.W., Wadas, T.J., Joo, N.S., Wine, J.J., Birket, S., Fernandez, C.M., Leung, H.M., Tearney, G.J., Verkman, A.S., Haggie, P.M., Scott, K., Bartels, D., Meyerholz, D.K., Rowe, S.M., Liu, X., Yan, Z., Haber, A.L., Sun, X., Engelhardt, J.F. :
Transgenic ferret models define pulmonary ionocyte diversity and function. Nature 621:857-867, 2023. Pubmed reference: 37730992. DOI: 10.1038/s41586-023-06549-9.
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

  • Created by Frank Nicholas on 01 May 2013
  • Changed by Frank Nicholas on 01 May 2013
  • Changed by Frank Nicholas on 29 Sep 2016
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 22 Sep 2023
  • Changed by Imke Tammen2 on 18 Dec 2023