Primary Identifier | MGI:99846 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14567 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable Rab GDP-dissociation inhibitor activity and small GTPase binding activity. Predicted to be involved in several processes, including Rab protein signal transduction; negative regulation of protein targeting to membrane; and regulation of axonogenesis. Located in myelin sheath. Is expressed in several structures, including liver; nervous system; placenta; sensory organ; and spleen. Used to study non-syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability; non-syndromic X-linked intellectual disability 41; and psychotic disorder. Orthologous to human GDI1 (GDP dissociation inhibitor 1). PHENOTYPE: Males hemizygous for a reporter allele show lower male aggression, short-term memory defects, altered synaptic vesicle pools and short-term synaptic plasticity, and impaired glutamate release. Homozygotes for a null allele show enhanced paired-pulse facilitation and sensitivity to induced seizures. [provided by MGI curators] |