OMIA:002157-9823 : Ectodermal dysplasia-9 in Sus scrofa |
In other species: rabbit
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614931 (trait) , 142976 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: no
Key variant is published: no
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"
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 |
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