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: Unknown
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

Reference

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.

Edit History


  • Created by Imke Tammen2 on 17 Feb 2023
  • Changed by Imke Tammen2 on 17 Feb 2023