OMIA:002402-9615 : Phelan-McDermid syndrome in Canis lupus familiaris (dog) |
In other species: crab-eating macaque
Categories: Behaviour / neurological phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606232 (trait) , 606230 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific name: SHANK3-associated autism spectrum disorder
Species-specific description: This phene includes references to studies involving gene edited or 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 | Canis lupus familiaris | 10 | NC_051814.1 (17395273..17348145) | SHANK3 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002402-9615: 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.
| 2024 | Zhu, F., Shi, Q., Jiang, Y.H., Zhang, Y.Q., Zhao, H. : |
| Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs. Mol Autism 15:9, 2024. Pubmed reference: 38297387. DOI: 10.1186/s13229-024-00587-4. | |
| 2023 | Ren, W., Huang, K., Li, Y., Yang, Q., Wang, L., Guo, K., Wei, P., Zhang, Y.Q. : |
| Altered pupil responses to social and non-social stimuli in Shank3 mutant dogs. Mol Psychiatry 28:3751-3759, 2023. Pubmed reference: 37848709. DOI: 10.1038/s41380-023-02277-8. | |
| Tian, R., Li, Y., Zhao, H., Lyu, W., Zhao, J., Wang, X., Lu, H., Xu, H., Ren, W., Tan, Q.Q., Shi, Q., Wang, G.D., Zhang, Y.P., Lai, L., Mi, J., Jiang, Y.H., Zhang, Y.Q. : | |
| Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing. Mol Psychiatry 28:3739-3750, 2023. Pubmed reference: 37848710. DOI: 10.1038/s41380-023-02276-9. | |
| Wu, L., Mei, S., Yu, S., Han, S., Zhang, Y.Q. : | |
| Shank3 mutations enhance early neural responses to deviant tones in dogs. Cereb Cortex 33:10546-10557, 2023. Pubmed reference: 37585733. DOI: 10.1093/cercor/bhad302. |
Edit History
- Created by Imke Tammen2 on 18 Aug 2023
- Changed by Imke Tammen2 on 19 Oct 2023
- Changed by Imke Tammen2 on 18 Dec 2023