OMIA:002552-9541 : Pancreatic agenesis, PDX1-related in Macaca fascicularis (crab-eating macaque) |
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600733 (gene) , 125853 (trait) , 606392 (trait) , 260370 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: Lack of development of the pancreas
Species-specific description: Zhang et al. (2024): "three PDX1-mutant cynomolgus macaques were generated using CRISPR/Cas9 technology, all of which succumbed shortly postpartum, exhibiting pancreatic agenesis."
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 |
|---|---|---|---|---|---|---|
| PDX1 | pancreatic and duodenal homeobox 1 | Macaca fascicularis | 17 | NC_088391.1 (7858550..7865775) | PDX1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002552-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Zhang, W.H., Zhuang, J.H., Guo, Y.Y., Chen, X.Y., Li, Y.Q., Xu, J.Q., Zhang, A.R., Chen, B.Y., Meng, W., Zhu, Y.H., Huang, J.J., Guo, Y.L., Yang, S.H. : |
| Pancreatic agenesis and altered m6A methylation in the pancreas of PDX1-mutant cynomolgus macaques. Zool Res 45:2095-8137(2024)06-1188-13:1188-1200, 2024. Pubmed reference: 39318126. DOI: 10.24272/j.issn.2095-8137.2024.044. |
Edit History
- Created by Imke Tammen2 on 26 Sep 2024
- Changed by Imke Tammen2 on 26 Sep 2024