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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