Primary Identifier | MGI:2442233 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 236915 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanyl-nucleotide exchange factor activity. Involved in regulation of postsynaptic specialization assembly. Located in postsynaptic density. Is active in GABA-ergic synapse. Is expressed in several structures, including central nervous system; dorsal root ganglion; and ear. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 8. Orthologous to human ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9). PHENOTYPE: Male mice hemizygous for a null allele exhibit impaired spatial learning, increased anxiety-associated behaviors, and altered central nervous system synaptic transmission. [provided by MGI curators] |