OMIA:002157-9823 : Ectodermal dysplasia-9 in Sus scrofa (pig) |
In other species: rabbit
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614931 (trait) , 142976 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2017
Species-specific description: This entry describes a genetically-modified organism (GMO)
Molecular basis: Han et al. (2017) "generated an ED-9 pig model via Hoxc13 gene knockout through single-stranded oligonucleotides (c.396C > A) combined with CRISPR/Cas9 and somatic cell nuclear transfer"
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 |
|---|---|---|---|---|---|---|
| HOXC13 | homeobox C13 | Sus scrofa | 5 | NC_010447.5 (19151096..19159008) | HOXC13 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002157-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2017 | Han, K., Liang, L., Li, L., Ouyang, Z., Zhao, B., Wang, Q., Liu, Z., Zhao, Y., Ren, X., Jiang, F., Lai, C., Wang, K., Yan, S., Huang, L., Guo, L., Zeng, K., Lai, L., Fan, N. : |
| Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia-9. Hum Mol Genet 26:184-191, 2017. Pubmed reference: 28011715. DOI: 10.1093/hmg/ddw378. |
Edit History
- Created by Frank Nicholas on 27 Aug 2018
- Changed by Imke Tammen2 on 23 Feb 2021
- Changed by Imke Tammen2 on 12 Sep 2022
- Changed by Imke Tammen2 on 16 Oct 2023
- Changed by Imke Tammen2 on 10 Dec 2023