OMIA:002383-9823 : Ornithine transcarbamylase deficiency in Sus scrofa (pig)

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).

Genetic engineering: Unknown
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
OTC ornithine carbamoyltransferase Sus scrofa X NC_010461.5 (34322398..34391711) OTC Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002383-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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