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