OMIA:002832-9913 : Lethality, embryonic, POU5F1-related in Bos taurus (taurine cattle)

Categories: Mortality / aging (incl. embryonic lethal)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 164177 (gene)

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].


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