OMIA:002762-61156 : Smith-Magenis syndrome, RAI1-related in Arvicanthis niloticus (African grass rat) |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607642 (gene) , 182290 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: yes
Key variant is published: no
Species-specific description: Xie et al. (2023) used CRISPR genome editing to create RAI1 knockout African grass rats. RAI1 "haploinsufficiency is responsible for Smith-Magenis Syndrome, a neurodevelopmental disorder characterized by sleep disturbance in humans." (GMO)
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002762-61156: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Xie, H., Linning-Duffy, K., Demireva, E.Y., Toh, H., Abolibdeh, B., Shi, J., Zhou, B., Iwase, S., Yan, L. : |
| CRISPR-based genome editing of a diurnal rodent, Nile grass rat (Arvicanthis niloticus). bioRxiv , 2023. Pubmed reference: 37662225. DOI: 10.1101/2023.08.23.553600. |
Edit History
- Created by Imke Tammen2 on 05 Sep 2023
- Changed by Imke Tammen2 on 05 Sep 2023
- Changed by Imke Tammen2 on 15 Oct 2023