OMIA:002157-9986 : Ectodermal dysplasia-9 in Oryctolagus cuniculus (rabbit) |
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: yes
Key variant known: yes
Year key variant first reported: 2019
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.
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 | Oryctolagus cuniculus | 4 | NC_067377.1 (45297259..45305410) | HOXC13 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002157-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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
- Created by Frank Nicholas on 27 Aug 2018
- Changed by Frank Nicholas on 27 Aug 2018
- Changed by Frank Nicholas on 20 Sep 2019
- Changed by Imke Tammen2 on 16 Oct 2023
- Changed by Imke Tammen2 on 10 Dec 2023