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

Categories: Hearing / vestibular / ear phene

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

Links to MONDO diseases: No links.

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).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002439-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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