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OMIA:002624-9986 : Usher syndrome, USH2A-related in Oryctolagus cuniculus (rabbit)

Categories: Vision / eye phene , Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 276901 (trait) , 608400 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Disease-related: 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