OMIA:002832-9913 : Lethality, embryonic, POU5F1-related in Bos taurus (taurine cattle) |
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 164177 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: OCT4 is a synonym of POU5F1
Species-specific description: Nix et al. (2024) used gene editing in a mechanistic study of gene function of OCT4 (also called POU5F1). The authors "aimed to improve the efficiency of biallelic deletions and deplete specific maternal RNAs in cattle zygotes using CRISPR-Cas editing technology. ... The results confirm that OCT4 is a key regulator of genes that modulate pluripotency and is required to form a functional blastocyst in cattle."
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 |
|---|---|---|---|---|---|---|
| POU5F1 | POU class 5 homeobox 1 | Bos taurus | 23 | NC_037350.1 (27982798..27987297) | POU5F1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002832-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Nix, J.L., Schettini, G.P., Speckhart, S.L., Ealy, A.D., Biase, F.H. : |
| Ablation of OCT4 function in cattle embryos by double electroporation of CRISPR-Cas for DNA and RNA targeting (CRISPR-DART). PNAS Nexus 2:pgad343, 2023. Pubmed reference: 37954164. DOI: 10.1093/pnasnexus/pgad343. |
Edit History
- Created by Imke Tammen2 on 06 Apr 2024
- Changed by Imke Tammen2 on 06 Apr 2024