OMIA:002676-8090 : RAD50 double-stranded break point repair protein deficiency in Oryzias latipes (Japanese medaka)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: 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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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
|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.|
- Created by Imke Tammen2 on 27 Apr 2023
- Changed by Imke Tammen2 on 27 Apr 2023