OMIA:002383-9823 : Ornithine transcarbamylase deficiency in Sus scrofa |
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 311250 (trait) , 300461 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| OTC | ornithine carbamoyltransferase | Sus scrofa | X | NC_010461.5 (34322398..34391711) | OTC | Homologene, Ensembl , NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2021 | Enosawa, S., Hsu, H.C., Yanagi, Y., Matsunari, H., Uchikura, A., Nagashima, H. : |
| Characterization and treatment responsiveness of genetically engineered ornithine transcarbamylase-deficient pig. J Clin Med 10:, 2021. Pubmed reference: 34362010 . DOI: 10.3390/jcm10153226. | |
| Tanihara, F., Hirata, M., Otoi, T. : | |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678 . DOI: 10.1262/jrd.2021-025. | |
| 2018 | Matsunari, H., Watanabe, M., Nakano, K., Enosawa, S., Umeyama, K., Uchikura, A., Yashima, S., Fukuda, T., Klymiuk, N., Kurome, M., Kessler, B., Wuensch, A., Zakhartchenko, V., Wolf, E., Hanazono, Y., Nagaya, M., Umezawa, A., Nakauchi, H., Nagashima, H. : |
| Modeling lethal X-linked genetic disorders in pigs with ensured fertility. Proc Natl Acad Sci U S A 115:708-713, 2018. Pubmed reference: 29311328 . DOI: 10.1073/pnas.1715940115. |
Edit History
- Created by Imke Tammen2 on 13 Aug 2021
- Changed by Imke Tammen2 on 13 Aug 2021
- Changed by Imke Tammen2 on 26 Dec 2021