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: Unknown
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].


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 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 , 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 , 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 , 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