OMIA:001323-9823 : Dwarfism, GHR-related in Sus scrofa (pig) |
In other species: taurine cattle , Southern African pygmy mouse
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 262500 (trait) , 604271 (trait) , 600946 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: similar to Laron Syndrome in humans renamed from 'Dwarfism, Laron' [28/04/2023]
Species-specific description: Genetically-modifed organism; GMO
Molecular basis: Cui et al. (2015) reported the first creation of a GMO miniature pig model of Laron disease by knocking out the GHR gene via zinc finger nucleas (ZFN technology.
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 |
|---|---|---|---|---|---|---|
| GHR | growth hormone receptor | Sus scrofa | 16 | NC_010458.4 (27126300..27422618) | GHR | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001323-9823: 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.
| 2023 | Kojima, M., Fuchimoto, D., Yamashita, S., Onishi, A., Degawa, M., Nemoto, K. : |
| Effect of growth hormone receptor deficiency on androgen-associated gene expression of hepatic drug metabolizing enzymes and drug transporters in pigs. Biol Pharm Bull 46:1338-1342, 2023. Pubmed reference: 37661412. DOI: 10.1248/bpb.b23-00237. | |
| Schilloks, M.C., Giese, I.M., Hinrichs, A., Korbonits, L., Hauck, S.M., Wolf, E., Deeg, C.A. : | |
| Effects of GHR deficiency and juvenile hypoglycemia on immune cells of a porcine model for Laron syndrome. Biomolecules 13:597, 2023. Pubmed reference: 37189345. DOI: 10.3390/biom13040597. | |
| Tanihara, F., Hirata, M., Namula, Z., Wittayarat, M., Do, L.T.K., Lin, Q., Takebayashi, K., Hara, H., Nagahara, M., Otoi, T. : | |
| GHR-mutant pig derived from domestic pig and microminipig hybrid zygotes using CRISPR/Cas9 system. Mol Biol Rep 50:5049-5057, 2023. Pubmed reference: 37101010. DOI: 10.1007/s11033-023-08388-3. | |
| Young, J.A., Hinrichs, A., Bell, S., Geitgey, D.K., Hume-Rivera, D., Bounds, A., Soneson, M., Laron, Z., Yaron-Shaminsky, D., Wolf, E., List, E.O., Kopchick, J.J., Berryman, D.E. : | |
| Growth hormone insensitivity and adipose tissue: tissue morphology and transcriptome analyses in pigs and humans. Pituitary 26:660-674, 2023. Pubmed reference: 37747600. DOI: 10.1007/s11102-023-01355-y. | |
| 2022 | Zhu, X.X., Pan, J.S., Lin, T., Yang, Y.C., Huang, Q.Y., Yang, S.P., Qu, Z.X., Lin, Z.S., Wen, J.C., Yan, A.F., Feng, J., Liu, L., Zhang, X.L., Lu, J.H., Tang, D.S. : |
| Adenine base-editing-mediated exon skipping induces gene knockout in cultured pig cells. Biotechnol Lett 44:59-76, 2022. Pubmed reference: 34997407. DOI: 10.1007/s10529-021-03214-x. | |
| 2021 | Han, Q., Chen, H., Wang, L., An, Y., Hu, X., Zhao, Y., Zhang, H., Zhang, R. : |
| Systemic deficiency of GHR in pigs leads to hepatic steatosis via negative regulation of AHR signaling. Int J Biol Sci 17:4108-4121, 2021. Pubmed reference: 34803486. DOI: 10.7150/ijbs.64894. | |
| 2018 | Yu, H., Long, W., Zhang, X., Xu, K., Guo, J., Zhao, H., Li, H., Qing, Y., Pan, W., Jia, B., Zhao, H.Y., Huang, X., Wei, H.J. : |
| Generation of GHR-modified pigs as Laron syndrome models via a dual-sgRNAs/Cas9 system and somatic cell nuclear transfer. J Transl Med 16:41, 2018. Pubmed reference: 29482569. DOI: 10.1186/s12967-018-1409-7. | |
| 2015 | Cui, D., Li, F., Li, Q., Li, J., Zhao, Y., Hu, X., Zhang, R., Li, N. : |
| Generation of a miniature pig disease model for human Laron syndrome. Sci Rep 5:15603, 2015. Pubmed reference: 26511035. DOI: 10.1038/srep15603. |
Edit History
- Created by Frank Nicholas on 29 Sep 2016
- Changed by Frank Nicholas on 29 Sep 2016
- Changed by Imke Tammen2 on 27 Aug 2021
- Changed by Imke Tammen2 on 24 Nov 2021
- Changed by Imke Tammen2 on 30 Jan 2022
- Changed by Imke Tammen2 on 28 Apr 2023
- Changed by Imke Tammen2 on 18 Dec 2023