OMIA:001794-9986 : Cystic fibrosis in Oryctolagus cuniculus (rabbit) |
In other species: domestic ferret , 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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific description:
Yang et al. (2020) "report the production of CFTR-ΔF508 rabbits by CRISPR/Cas9-mediated gene editing." This study involves genetically modified organisms (GMO).
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 | CF transmembrane conductance regulator | Oryctolagus cuniculus | 7 | NC_067380.1 (145770301..146110081) | CFTR | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001794-9986: 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.
| 2024 | Liang, X., Hou, X., Bouhamdan, M., Sun, Y., Song, Z., Rajagopalan, C., Jiang, H., Wei, H.G., Song, J., Yang, D., Guo, Y., Zhang, Y., Mou, H., Zhang, J., Chen, Y.E., Sun, F., Jin, J.P., Zhang, K., Xu, J. : |
| Sotagliflozin attenuates liver associated disorders in cystic fibrosis rabbits. JCI Insight :e165826, 2024. Pubmed reference: 38358827. DOI: 10.1172/jci.insight.165826. | |
| 2023 | Wu, Q., Liang, X., Hou, X., Song, Z., Bouhamdan, M., Qiu, Y., Koike, Y., Rajagopalan, C., Wei, H.G., Jiang, H., Hish, G., Zhang, J., Chen, Y.E., Jin, J.P., Xu, J., Zhang, K., Sun, F. : |
| Cystic fibrosis rabbits develop spontaneous hepatobiliary lesions and CF-associated liver disease (CFLD)-like phenotypes. PNAS Nexus 2:pgac306, 2023. Pubmed reference: 36712930. DOI: 10.1093/pnasnexus/pgac306. | |
| 2021 | Liang, X., Bouhamdan, M., Hou, X., Zhang, K., Song, J., Hao, K., Jin, J.P., Zhang, Z., Xu, J. : |
| Intestinal dysbiosis in young cystic fibrosis rabbits. J Pers Med 11:132, 2021. Pubmed reference: 33669429. DOI: 10.3390/jpm11020132. | |
| Xu, J., Livraghi-Butrico, A., Hou, X., Rajagopalan, C., Zhang, J., Song, J., Jiang, H., Wei, H.G., Wang, H., Bouhamdan, M., Ruan, J., Yang, D., Qiu, Y., Xie, Y., Barrett, R., McClellan, S., Mou, H., Wu, Q., Chen, X., Rogers, T.D., Wilkinson, K.J., Gilmore, R.C., Esther, C.R., Zaman, K., Liang, X., Sobolic, M., Hazlett, L., Zhang, K., Frizzell, R.A., Gentzsch, M., O'Neal, W.K., Grubb, B.R., Chen, Y.E., Boucher, R.C., Sun, F. : | |
| Phenotypes of CF rabbits generated by CRISPR/Cas9-mediated disruption of the CFTR gene. JCI Insight 6:e139813, 2021. Pubmed reference: 33232302. DOI: 10.1172/jci.insight.139813. | |
| 2020 | Yang, D., Liang, X., Pallas, B., Hoenerhoff, M., Ren, Z., Han, R., Zhang, J., Chen, Y.E., Jin, J.P., Sun, F., Xu, J. : |
| Production of CFTR-ΔF508 rabbits. Front Genet 11:627666, 2020. Pubmed reference: 33552140. DOI: 10.3389/fgene.2020.627666. |
Edit History
- Created by Imke Tammen2 on 21 Feb 2024
- Changed by Imke Tammen2 on 21 Feb 2024