OMIA:002383-9823 : Ornithine transcarbamylase deficiency in Sus scrofa (pig)
Categories: Homeostasis / metabolism phene
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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|
Cite this entry
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.|
- Created by Imke Tammen2 on 13 Aug 2021
- Changed by Imke Tammen2 on 13 Aug 2021
- Changed by Imke Tammen2 on 26 Dec 2021