OMIA:002402-9541 : Phelan-McDermid syndrome in Macaca fascicularis (crab-eating macaque) |
In other species: dog
Categories: Behaviour / neurological phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606232 (trait) , 606230 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | Macaca fascicularis | 10 | NC_052264.1 (60609389..60551814) | SHANK3 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002402-9541: 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.
| 2023 | Veenstra-VanderWeele, J., O'Reilly, K.C., Dennis, M.Y., Uribe-Salazar, J.M., Amaral, D.G. : |
| Translational neuroscience approaches to understanding autism. Am J Psychiatry 180:265-276, 2023. Pubmed reference: 37002692 . DOI: 10.1176/appi.ajp.20230153. | |
| 2019 | Tu, Z., Zhao, H., Li, B., Yan, S., Wang, L., Tang, Y., Li, Z., Bai, D., Li, C., Lin, Y., Li, Y., Liu, J., Xu, H., Guo, X., Jiang, Y.H., Zhang, Y.Q., Li, X.J. : |
| CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. Hum Mol Genet 28:561-571, 2019. Pubmed reference: 30329048 . DOI: 10.1093/hmg/ddy367. | |
| 2017 | Zhao, H., Tu, Z., Xu, H., Yan, S., Yan, H., Zheng, Y., Yang, W., Zheng, J., Li, Z., Tian, R., Lu, Y., Guo, X., Jiang, Y.H., Li, X.J., Zhang, Y.Q. : |
| Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate. Cell Res 27:1293-1297, 2017. Pubmed reference: 28741620 . DOI: 10.1038/cr.2017.95. |
Edit History
- Created by Imke Tammen2 on 27 Aug 2021
- Changed by Imke Tammen2 on 27 Aug 2021
- Changed by Imke Tammen2 on 06 Apr 2023