Primary Identifier | MGI:104750 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 319504 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein binding activity involved in heterotypic cell-cell adhesion. Involved in cell-cell adhesion; nervous system development; and regulation of postsynapse organization. Acts upstream of or within several processes, including neuron development; neuronal action potential propagation; and regulation of neuron projection development. Located in axon; plasma membrane; and synapse. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study autism spectrum disorder. Orthologous to human NRCAM (neuronal cell adhesion molecule). PHENOTYPE: Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. [provided by MGI curators] |