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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: 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

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
  • Changed by Imke Tammen2 on 18 Dec 2023