Primary Identifier | MGI:88257 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 12323 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium/calmodulin-dependent protein kinase activity. Involved in regulation of neuron migration. Acts upstream of or within several processes, including G1/S transition of mitotic cell cycle; modulation of chemical synaptic transmission; and protein phosphorylation. Located in cytosol; postsynaptic density; and spindle midzone. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; sensory organ; and skeletal musculature. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 54. Orthologous to human CAMK2B (calcium/calmodulin dependent protein kinase II beta). PHENOTYPE: Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits. [provided by MGI curators] |