OMIA:002762-61156 : Smith-Magenis syndrome, RAI1-related in Arvicanthis niloticus (African grass rat)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607642 (gene) , 182290 (trait)

Single-gene trait/disorder: yes

Disease-related: 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: 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
Rai1 retinoic acid induced 1 Arvicanthis niloticus 6 NC_047663.1 (61280387..61246369) Rai1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002762-61156: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 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). BMC Biol 22:144, 2024. Pubmed reference: 38956550. DOI: 10.1186/s12915-024-01943-9.
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
  • Changed by Imke Tammen2 on 18 Dec 2023
  • Changed by Imke Tammen2 on 27 Aug 2024