| Primary Identifier | MGI:1930016 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 58234 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ionotropic glutamate receptor binding activity and scaffold protein binding activity. A structural constituent of postsynaptic density. Involved in several processes, including learning or memory; modulation of chemical synaptic transmission; and postsynapse organization. Acts upstream of or within several processes, including MAPK cascade; negative regulation of actin filament bundle assembly; and regulation of AMPA glutamate receptor clustering. Located in neuron spine and plasma membrane. Is active in glutamatergic synapse. Is expressed in central nervous system. Used to study Phelan-McDermid syndrome; autism spectrum disorder; and schizophrenia. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3). PHENOTYPE: Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of synaptic and autism-related impairments. Homozygotes lacking exon 9 show altered excitation/inhibition balance, increased rearing, and mildly impaired spatial memory. Knockout also affects behavior in response to physical and virtual novel objects. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
