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)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Species summary: 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 | Ensembl, NCBI gene |
Contact us
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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
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2026 | Xie 谢飞, F., Liu 刘晓宙, X., Wang 王露露, L., Zhang 张聪, C., Liu 刘传宏, C., Huo 霍振庆, Z., Zhao 赵正东, Z., Zhao 赵清远, Q., He 贺秋月, Q., Guo 郭科男, K., Sun 孙宇, Y., Wang 王勇, Y. : |
| A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing. Hear Res 472:S0378-5955(26)00028-6:109552, 2026. Pubmed reference: 41637835. DOI: 10.1016/j.heares.2026.109552. | |
| 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