OMIA:002676-8090 : RAD50 double-stranded break point repair protein deficiency in Oryzias latipes (Japanese medaka) |
Categories: Neoplasm , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604040 (gene) , 613078 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Chisada et al. (2023) "adopted a medaka rad50 mutant to demonstrate the significance of RAD50 mutation in pathogenesis using the medaka as an experimental animal. A 2-base pair deletion in the rad50 gene was introduced into transparent STIII medaka using the CRISPR/Cas9 system. ... Our results revealed that the medaka rad50 mutation concurrently reproduced tumorigenesis (8 out of 10 rad50Δ2/+ medaka), had a decrease in median survival time (65.7 ± 1.1 weeks in control vs. 54.2 ± 2.6 weeks in rad50Δ2/+ medaka, p = 0.001, Welch's t-test), exhibited semi-lethality in rad50Δ2/Δ2 medaka and most of the major ataxia-telangiectasia phenotypes, including ataxia (rheotaxis ability was lower in rad50Δ2/+ medaka than in the control, Mann-Whitney U test, p < 0.05), and telangiectasia (6 out of 10 rad50Δ2/+ medaka)." This study involves 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 |
---|---|---|---|---|---|---|
rad50 | RAD50 homolog (S. cerevisiae) | Oryzias latipes | 14 | NC_019872.2 (7377343..7349019) | rad50 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002676-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2023 | Chisada, S., Ohtsuka, K., Fujiwara, M., Yoshida, M., Matsushima, S., Watanabe, T., Karita, K., Ohnishi, H. : |
A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model. PLoS One 18:e0282277, 2023. Pubmed reference: 37098078. DOI: 10.1371/journal.pone.0282277. |
Edit History
- Created by Imke Tammen2 on 27 Apr 2023
- Changed by Imke Tammen2 on 27 Apr 2023
- Changed by Imke Tammen2 on 18 Dec 2023