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


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