OMIA:002402-9615 : Phelan-McDermid syndrome in Canis lupus familiaris (dog) |
In other species: crab-eating macaque
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 summary: This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Species-specific name: SHANK3-associated autism spectrum disorder
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 | Ensembl, NCBI gene |
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
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.
| 2025 | Li, Y., Wang, Q., Yuan, S., Lam, T.K., Guo, K., Zhang, Y.Q., Yi, L. : |
| Reduced attention to human eyes in autism-associated Shank3 mutant laboratory beagle dogs. Mol Psychiatry 30:3765-3773, 2025. Pubmed reference: 40148549. DOI: 10.1038/s41380-025-02965-7. | |
| Lyu, W., Li, Y., Yao, A., Tan, Q.Q., Zhang, R., Zhao, J.P., Guo, K., Jiang, Y.H., Tian, R., Zhang, Y.Q. : | |
| Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs. Transl Psychiatry 15:76, 2025. Pubmed reference: 40050270. DOI: 10.1038/s41398-025-03296-5. | |
| Shi, Q., Ren, B., Lu, X., Zhang, L., Wu, L., Hu, L., Zhang, Y.Q. : | |
| Neural mechanisms underlying reduced nocifensive sensitivity in autism-associated Shank3 mutant dogs. Mol Psychiatry 30:3640-3649, 2025. Pubmed reference: 40097608. DOI: 10.1038/s41380-025-02952-y. | |
| Yuan, S., Pang, C., Wu, L., Yi, L., Guo, K., Jiang, Y.H., Zhang, Y.Q., Han, S. : | |
| Autism-like atypical face processing in Shank3 mutant dogs. Sci Adv 11:eadu3793, 2025. Pubmed reference: 40173245. DOI: 10.1126/sciadv.adu3793. | |
| 2024 | Ren, W., Yu, S., Guo, K., Lu, C., Zhang, Y.Q. : |
| Disrupted human-dog interbrain neural coupling in autism-associated SHANK3 mutant dogs. Adv Sci (Weinh) 11:2402493:e2402493, 2024. Pubmed reference: 39257367. DOI: 10.1002/advs.202402493. | |
| Shi, Q., Wu, L., Ren, B., Guo, K., Jiang, Y.H., Zhang, Y.Q., Hu, L. : | |
| Impaired tactile processing in autism-associated Shank3 mutant dogs: neural mechanism and intervention. Sci Bull (Beijing) 70:483-487, 2024. Pubmed reference: 39294081. DOI: 10.1016/j.scib.2024.09.011. | |
| 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