OMIA 002157-9986 : Ectodermal dysplasia-9 in Oryctolagus cuniculus

In other species: pig , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614931

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2018

Species-specific description: This entry describes a genetically-modified organism (GMO)

Molecular basis: Deng et al. (2018) created a rabbit model of human ectodermal dysplasia-9 by ablating the rabbit Hoxc13 gene.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HOXC13 homeobox C13 Oryctolagus cuniculus 4 NC_013672.1 (37724475..37732228) HOXC13 Homologene, Ensembl, NCBI gene

Reference


2018 Deng, J., Chen, M., Liu, Z., Song, Y., Sui, T., Lai, L., Li, Z. :
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits. FASEB J :fj201800928RR, 2018. Pubmed reference: 30125135. DOI: 10.1096/fj.201800928RR.

Edit History


  • Created by Frank Nicholas on 27 Aug 2018
  • Changed by Frank Nicholas on 27 Aug 2018