OMIA:002402-9541 : Phelan-McDermid syndrome in Macaca fascicularis (crab-eating macaque) |
In other species: dog
Categories: Behaviour / neurological phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606232 (trait) , 606230 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: This phene includes references to studies involving genetically modified organisms (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 |
---|---|---|---|---|---|---|
SHANK3 | SH3 and multiple ankyrin repeat domains 3 | Macaca fascicularis | 10 | NC_088384.1 (878529..820090) | 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. | |
Zhou, Y., Sharma, J., Ke, Q., Landman, R., Yuan, J., Chen, H., Hayden, D.S., Fisher, J.W., Jiang, M., Menegas, W., Aida, T., Yan, T., Zou, Y., Xu, D., Parmar, S., Hyman, J.B., Fanucci-Kiss, A., Meisner, O., Wang, D., Huang, Y., Li, Y., Bai, Y., Ji, W., Lai, X., Li, W., Huang, L., Lu, Z., Wang, L., Anteraper, S.A., Sur, M., Zhou, H., Xiang, A.P., Desimone, R., Feng, G., Yang, S. : | |
Atypical behaviour and connectivity in SHANK3-mutant macaques. Nature 570:326-331, 2019. Pubmed reference: 31189958. DOI: 10.1038/s41586-019-1278-0. | |
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
- Changed by Imke Tammen2 on 18 Dec 2023