Primary Identifier | MGI:95564 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14265 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including N6-methyladenosine-containing RNA reader activity; RNA binding activity; and dynein complex binding activity. Involved in several processes, including chemical synaptic transmission; negative regulation of long-term synaptic depression; and post-transcriptional regulation of gene expression. Acts upstream of or within with a positive effect on miRNA-mediated post-transcriptional gene silencing. Acts upstream of or within central nervous system development and dendritic spine development. Located in several cellular components, including cytoplasmic ribonucleoprotein granule; filopodium; and perikaryon. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and presynaptic cytosol. Is expressed in several structures, including central nervous system; genitourinary system; liver; sensory organ; and spleen. Used to study autism spectrum disorder; fragile X syndrome; and fragile X-associated tremor/ataxia syndrome. Human ortholog(s) of this gene implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and primary ovarian insufficiency 1. Orthologous to human FMR1 (fragile X messenger ribonucleoprotein 1). PHENOTYPE: Male mice hemizygous for a targeted null mutation exhibit macroorchidism associated with more rapid Sertoli cell proliferation, altered dendritic spines of visual cortex pyramidal cells and subtle differences in a variety of behavioral tests. Homozygous females show behavioral abnormalities. [provided by MGI curators] |