OMIA:002413-9483 : Deafness, OTOF-related in Callithrix jacchus (white-tufted-ear marmoset) |
In other species: sheep
Categories: Hearing / vestibular / ear phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603681 (gene) , 601071 (trait)
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: no
Species summary: Kahland et al. (2026) "report on the generation and characterization of a marmoset KO that models OTOF-related auditory synaptopathy ... . ... Auditory brainstem recordings and otoacoustic emissions revealed profound auditory synaptopathy and OTOF-KO was further validated by the lack of otoferlin expression in IHCs. " This study involves 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 |
|---|---|---|---|---|---|---|
| OTOF | otoferlin | Callithrix jacchus | 14 | NC_133515.1 (88450107..88547738) | OTOF | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002413-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Kahland, T., Lindenwald, D.L., Jeschke, M., Kusch, K., Tkachenko Eikel, O., Uhl, M., Rüger, N., Drummer, C., Wolf, B., Benseler, F., Brose, N., Behr, R., Moser, T. : |
| Generation of marmoset monkeys with a non-mosaic disruption of the OTOF gene as a model of human deafness. Nat Commun 17:3033, 2026. Pubmed reference: 41904122. DOI: 10.1038/s41467-026-71047-1. |
Edit History
- Created by Imke Tammen on 04 Oct 2026