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

Categories: Hearing / vestibular / ear phene

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

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
GJB2 gap junction protein beta 2 Sus scrofa 11 NC_010453.5 (781252..774090) GJB2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002439-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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
  • Changed by Imke Tammen2 on 18 Dec 2023