| Primary Identifier | MGI:2137336 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 108100 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable several functions, including PDZ domain binding activity; proline-rich region binding activity; and scaffold protein binding activity. Involved in actin filament organization; modulation of chemical synaptic transmission; and regulation of cell shape. Acts upstream of or within dendrite development and regulation of synaptic plasticity. Located in neuron projection. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in Gilles de la Tourette syndrome; attention deficit hyperactivity disorder; and autism spectrum disorder. Orthologous to human BAIAP2 (BAR/IMD domain containing adaptor protein 2). PHENOTYPE: Homozygotes for a knock-out allele show mid to late gestation lethality, developmental delay, oligodactyly, subcutaneous edema, and severely impaired cardiac and placental development. Adult homozygotes fail to regulate synaptic plasticity and exhibit hippocampus-associated learning deficits. [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
