OMIA 002552-9823 : Pancreatic agenesis, PDX1-related in Sus scrofa

In other species: sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600733 (gene) , 125853 (trait) , 606392 (trait) , 260370 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Lack of development of the pancreas

Species-specific name: This phene includes references to studies involving genetically modified organisms (GMO).

Species-specific description: Tanihara et al. (2020) "generated PDX1-modified pigs by the CRISPR/Cas9 system introduced into zygotes via electroporation and investigated the mosaicism, phenotypes, and inheritance of the resulting pigs. ... In conclusion, the frequency of the PDX1 mutation is presumed to relate to pancreas formation, and PDX1 mutant founder pigs generated from zygotes introduced to the CRISPR/Cas9 system can serve as providers of nonmosaics to contribute to medical research on diabetes mellitus."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PDX1 pancreatic and duodenal homeobox 1 Sus scrofa 11 NC_010453.5 (5303609..5309063) PDX1 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.
2020 Tanihara, F., Hirata, M., Thi Nguyen, N., Anh Le, Q., Hirano, T., Otoi, T. :
Generation of viable PDX1 gene-edited founder pigs as providers of nonmosaics. Mol Reprod Dev 87:471-481, 2020. Pubmed reference: 32166879. DOI: 10.1002/mrd.23335.
2019 Tanihara, F., Hirata, M., Nguyen, N.T., Le, Q.A., Hirano, T., Takemoto, T., Nakai, M., Fuchimoto, D.I., Otoi, T. :
Generation of PDX-1 mutant porcine blastocysts by introducing CRISPR/Cas9-system into porcine zygotes via electroporation. Anim Sci J 90:55-61, 2019. Pubmed reference: 30368976. DOI: 10.1111/asj.13129.

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  • Created by Imke Tammen2 on 31 May 2022