OMIA 002402-9541 : Phelan-McDermid syndrome in Macaca fascicularis |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
606232 (trait)
,
606230 (gene)
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 |
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.
| 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