| Primary Identifier | MGI:2151070 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 94190 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase activator activity and actin binding activity. Involved in negative regulation of proteasomal protein catabolic process. Acts upstream of or within several processes, including regulation of endocytosis; regulation of glutamatergic synaptic transmission; and synaptic vesicle endocytosis. Located in several cellular components, including actin cytoskeleton; dendritic spine; and terminal bouton. Is expressed in several structures, including central nervous system; lung; metanephros; retina; and thymus. Used to study syndromic intellectual disability. Human ortholog(s) of this gene implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Orthologous to human OPHN1 (oligophrenin 1). PHENOTYPE: Homozygous and hemizygous mice exhibit strain background-dependent premature death, dilated brain ventricles, impaired sperm motility, and abnormal behavior including decreased anxiety and increased activity. Heterozygotes have a wavy coat and vibrissae,are small and have decreased litter sizes. [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
