OMIA:002360-9823 : Deafness, OSBPL2-related in Sus scrofa (pig)

Categories: Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606731 (gene) , 616340 (trait)

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).

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

Breed: Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OSBPL2 oxysterol binding protein like 2 Sus scrofa 17 NC_010459.5 (61643263..61683178) OSBPL2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002360-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • Created by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 18 Dec 2023