OMIA 002439-9823 : Deafness, GJB2-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 121011 (gene) , 220290 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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


2020 Xie, F., Zhou, X., Lin, T., Wang, L., Liu, C., Luo, X., Luo, L., Chen, H., Guo, K., Wei, H., Wang, Y. :
Production of gene-edited pigs harboring orthologous human mutations via double cutting by CRISPR/Cas9 with long single-stranded DNAs as homology-directed repair templates by zygote injection. Transgenic Res 29:587-598, 2020. Pubmed reference: 33170439. DOI: 10.1007/s11248-020-00218-7.

Edit History

  • Created by Imke Tammen2 on 27 Sep 2021
  • Changed by Imke Tammen2 on 27 Sep 2021