OMIA:002624-9986 : Usher syndrome, USH2A-related in Oryctolagus cuniculus (rabbit) |
Categories: Vision / eye phene , Hearing / vestibular / ear phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 276901 (trait) , 608400 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: This phene includes references to studies involving gene edited or 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 |
|---|---|---|---|---|---|---|
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | Oryctolagus cuniculus | 16 | NC_067389.1 (28662228..27830424) | USH2A | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002624-9986: 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.
| 2023 | Nguyen, V.P., Song, J., Prieskorn, D., Zou, J., Li, Y., Dolan, D., Xu, J., Zhang, J., Jayasundera, K.T., Yang, J., Raphael, Y., Khan, N., Iannuzzi, M., Bisgaier, C., Chen, Y.E., Paulus, Y.M., Yang, D. : |
| USH2A gene mutations in rabbits lead to progressive retinal degeneration and hearing loss. Transl Vis Sci Technol 12:26, 2023. Pubmed reference: 36795064. DOI: 10.1167/tvst.12.2.26. | |
| Nguyen, V.P., Hu, J., Zhe, J., Chen, E.Y., Yang, D., Paulus, Y.M. : | |
| Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits. Sci Rep 13:22071, 2023. Pubmed reference: 38086867. DOI: 10.1038/s41598-023-48872-1. |
Edit History
- Created by Imke Tammen2 on 17 Feb 2023
- Changed by Imke Tammen2 on 17 Feb 2023
- Changed by Imke Tammen2 on 18 Dec 2023