OMIA 002413-9940 : Deafness, OTOF-related in Ovis aries

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603681 (gene) , 601071 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OTOF otoferlin Ovis aries 3 NC_056056.1 (33709755..33619825) OTOF Homologene, Ensembl, NCBI gene

Reference


2020 Menchaca, A., Dos Santos-Neto, P.C., Souza-Neves, M., Cuadro, F., Mulet, A.P., Tesson, L., Chenouard, V., Guiffès, A., Heslan, J.M., Gantier, M., Anegón, I., Crispo, M. :
Otoferlin gene editing in sheep via CRISPR-assisted ssODN-mediated Homology Directed Repair. Sci Rep 10:5995, 2020. Pubmed reference: 32265471. DOI: 10.1038/s41598-020-62879-y.

Edit History


  • Created by Imke Tammen2 on 30 Aug 2021