OMIA:002360-9823 : Deafness, OSBPL2-related in Sus scrofa (pig)
Categories: Hearing / vestibular / ear phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Species-specific description: Yao et al. (2019): "the OSBPL2-disrupted Bama miniature (BM) pig model was constructed using CRISPR/Cas9-mediated gene editing, somatic cell nuclear transfer (SCNT) and embryo transplantation approaches, and then subjected to phenotypic characterization of auditory function and serum lipid profiles. The OSBPL2-disrupted pigs displayed progressive hearing loss (HL) with degeneration/apoptosis of cochlea hair cells (HCs) and morphological abnormalities in HC stereocilia, as well as hypercholesterolaemia. High-fat diet (HFD) feeding aggravated the development of HL and led to more severe hypercholesterolaemia." This trait results from genetic modification via CRISPR/cas9: the affected animals are genetically-modified organisms (GMO).
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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.
|2021||Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :|
|The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928 . DOI: 10.1016/j.jgg.2021.03.015.|
|2019||Yao, J., Zeng, H., Zhang, M., Wei, Q., Wang, Y., Yang, H., Lu, Y., Li, R., Xiong, Q., Zhang, L., Chen, Z., Xing, G., Cao, X., Dai, Y. :|
|OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia. J Genet Genomics 46:379-387, 2019. Pubmed reference: 31451425 . DOI: 10.1016/j.jgg.2019.06.006.|
- Created by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 25 Jun 2021