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

Considered a defect: 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