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

In other species: pig

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: Deng et al. (2019) 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_067377.1 (45297259..45305410) HOXC13 Homologene, Ensembl , NCBI gene

Reference

2019 Deng, J., Chen, M., Liu, Z., Song, Y., Sui, T., Lai, L., Li, Z., 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 33:1226-1234, 2019. Pubmed reference: 30125135 . DOI: 10.1096/fj.201800928RR.

Edit History


  • Changed by Frank Nicholas on 27 Aug 2018
  • Created by Frank Nicholas on 27 Aug 2018
  • Changed by Frank Nicholas on 20 Sep 2019