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Protein Coding Gene : Fmr1 fragile X messenger ribonucleoprotein 1

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 7.1.0)

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]
  • synonyms:
  • fragile X mental retardation syndrome 1,
  • fragile X messenger ribonucleoprotein 1,
  • fragile X mental retardation 1,
  • Fmr-1,
  • Fmr1,
  • FMRP,
  • MGD-MRK-9843,
  • MGD-MRK-9844

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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