| Primary Identifier | MGI:95813 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 14804 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables PDZ domain binding activity and scaffold protein binding activity. Involved in several processes, including cerebellar granule cell differentiation; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and regulation of postsynaptic density assembly. Acts upstream of or within several processes, including chemical synaptic transmission; prepulse inhibition; and regulation of neuron apoptotic process. Located in dendritic spine and postsynaptic membrane. Part of ionotropic glutamate receptor complex. Is active in glutamatergic synapse; parallel fiber to Purkinje cell synapse; and postsynaptic density membrane. Is expressed in several structures, including brain; eye; genitourinary system; intestine; and spinal cord. Used to study autosomal recessive spinocerebellar ataxia 18. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 18. Orthologous to human GRID2 (glutamate ionotropic receptor delta type subunit 2). PHENOTYPE: Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm. [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
