OMIA:001794-9986 : Cystic fibrosis in Oryctolagus cuniculus (rabbit)

In other species: domestic ferret , pig , sheep

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

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].


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 9: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