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:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: 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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2025 | Yuan, F., Sun, X., Park, S.Y., Tang, Y., Feng, Z., Ebadi, M., Yi, Y., Thompson, A.E., Karippaparambil, J.D., Engelhardt, J.F., Yan, Z. : |
| Novel cystic fibrosis ferret model enables visualization of CFTR expression cells and genetic CFTR reactivation. Hum Gene Ther , 2025. Pubmed reference: 39791230. DOI: 10.1089/hum.2024.215. | |
| 2024 | Ciobanu, C., Yanda, M., Zeidan, A., Izzi, J., Guggino, W.B., Cebotaru, L. : |
| Amelioration of airway and GI disease in G551D-CF ferrets by AAV1 and AAV6. Gene Ther 31:499-510, 2024. Pubmed reference: 39069560. DOI: 10.1038/s41434-024-00469-7. | |
| Drzymała-Czyż, S., Walkowiak, J., Colombo, C., Alicandro, G., Storrösten, O.T., Kolsgaard, M., Bakkeheim, E., Strandvik, B. : | |
| Fatty acid abnormalities in cystic fibrosis-the missing link for a cure? iScience 27:111153, 2024. Pubmed reference: 39620135. DOI: 10.1016/j.isci.2024.111153. | |
| 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. | |
| Excoffon, K.J., Smith, M.D., Falese, L., Schulingkamp, R., Lin, S., Mahankali, M., Narayan, P.K., Glatfelter, M., Limberis, M.P., Yuen, E., Kolbeck, R. : | |
| Inhalation of SP-101 followed by inhaled doxorubicin results in robust and durable hCFTRΔR transgene expression in the airways of wild-type and cystic fibrosis ferrets. Hum Gene Ther 35:710-725, 2024. Pubmed reference: 39155828. DOI: 10.1089/hum.2024.064. | |
| Mohammed, S.M., Bone, R.N., Aquino, J.D.C., Mirmira, R.G., Evans-Molina, C., Ismail, H.M. : | |
| Changes in immunofluorescence staining during islet regeneration in a cystic fibrosis-related diabetes (CFRD) ferret model. Islets 16:2436696, 2024. Pubmed reference: 39641365. DOI: 10.1080/19382014.2024.2436696. | |
| Rotti, P.G., Yi, Y., Gasser, G., Yuan, F., Sun, X., Apak-Evans, I., Wu, P., Liu, G., Choi, S., Reeves, R., Scioneaux, A.E., Zhang, Y., Winter, M., Liang, B., Cunicelli, N., Uc, A., Norris, A.W., Sussel, L., Wells, K.L., Engelhardt, J.F. : | |
| CFTR represses a PDX1 axis to govern pancreatic ductal cell fate. iScience 27:111393, 2024. Pubmed reference: 39687022. DOI: 10.1016/j.isci.2024.111393. | |
| Taylor-Cousar, J.L., Fakhari, S., Allison, L., Bartels, D.J., Jain, R., Han, S. : | |
| CF Ferrets exposed to in utero ivacaftor do not develop lens abnormalities. J Cyst Fibros 24:19-20, 2024. Pubmed reference: 39289139. DOI: 10.1016/j.jcf.2024.09.007. | |
| 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