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
Disease-related: 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