OMIA:002157-9823 : Ectodermal dysplasia-9 in Sus scrofa (pig)

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: 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].


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