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