OMIA 002406-9541 : Rett syndrome, MECP2-related in Macaca fascicularis

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300005 (gene) , 312750 (trait)

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
MECP2 methyl-CpG binding protein 2 Macaca fascicularis X NC_052275.1 (148157571..148080704) MECP2 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.
2021 Zhang, X., Lin, J.S., Spruyt, K. :
Sleep problems in Rett syndrome animal models: A systematic review. J Neurosci Res 99:529-544, 2021. Pubmed reference: 32985711. DOI: 10.1002/jnr.24730.
2020 Cai, D.C., Wang, Z., Bo, T., Yan, S., Liu, Y., Liu, Z., Zeljic, K., Chen, X., Zhan, Y., Xu, X., Du, Y., Wang, Y., Cang, J., Wang, G.Z., Zhang, J., Sun, Q., Qiu, Z., Ge, S., Ye, Z., Wang, Z. :
MECP2 duplication causes aberrant GABA pathways, circuits and behaviors in transgenic monkeys: Neural mappings to patients with autism. J Neurosci 40:3799-3814, 2020. Pubmed reference: 32269107. DOI: 10.1523/JNEUROSCI.2727-19.2020.
2019 Zhang, B., Zhou, Z., Zhou, Y., Zhang, T., Ma, Y., Niu, Y., Ji, W., Chen, Y. :
Social-valence-related increased attention in rett syndrome cynomolgus monkeys: An eye-tracking study. Autism Res 12:1585-1597, 2019. Pubmed reference: 31389199. DOI: 10.1002/aur.2189.
2017 Chen, Y., Yu, J., Niu, Y., Qin, D., Liu, H., Li, G., Hu, Y., Wang, J., Lu, Y., Kang, Y., Jiang, Y., Wu, K., Li, S., Wei, J., He, J., Wang, J., Liu, X., Luo, Y., Si, C., Bai, R., Zhang, K., Liu, J., Huang, S., Chen, Z., Wang, S., Chen, X., Bao, X., Zhang, Q., Li, F., Geng, R., Liang, A., Shen, D., Jiang, T., Hu, X., Ma, Y., Ji, W., Sun, Y.E. :
Modeling Rett Syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys. Cell 169:945-955.e10, 2017. Pubmed reference: 28525759. DOI: 10.1016/j.cell.2017.04.035.

Edit History


  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 30 Aug 2021
  • Changed by Imke Tammen2 on 16 Sep 2021