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Fmr1 Gene Detail
Summary
  • Symbol
    Fmr1
  • Name
    fragile X messenger ribonucleoprotein 1
  • Synonyms
    Fmr-1, FMRP, fragile X mental retardation 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95564
    NCBI Gene: 14265
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:67722147-67761569 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 34.83 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    555 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95564
 protein coding gene ChrX:67722144-67761569 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035772
 protein coding gene ChrX:64275049-64317042 (+)
A/J MGP_AJ_G0035755
 protein coding gene ChrX:64395296-64434065 (+)
AKR/J MGP_AKRJ_G0035675
 protein coding gene ChrX:66130710-66170742 (+)
BALB/cJ MGP_BALBcJ_G0035742
 protein coding gene ChrX:63633752-63676191 (+)
C3H/HeJ MGP_C3HHeJ_G0035446
 protein coding gene ChrX:64693544-64734438 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036272
 protein coding gene ChrX:66210154-66259564 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033121
 protein coding gene ChrX:63488697-63526280 (+)
CAST/EiJ MGP_CASTEiJ_G0034736
 protein coding gene ChrX:50246668-50288983 (+)
CBA/J MGP_CBAJ_G0035419
 protein coding gene ChrX:68038587-68077441 (+)
DBA/2J MGP_DBA2J_G0035572
 protein coding gene ChrX:63991135-64036831 (+)
FVB/NJ MGP_FVBNJ_G0035523
 protein coding gene ChrX:63464476-63505457 (+)
LP/J MGP_LPJ_G0035660
 protein coding gene ChrX:65086049-65127009 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035559
 protein coding gene ChrX:70388797-70437861 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036293
 protein coding gene ChrX:64117397-64156408 (+)
PWK/PhJ MGP_PWKPhJ_G0034436
 protein coding gene ChrX:48413211-48452246 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034275
 protein coding gene ChrX:51218260-51260021 (+)
WSB/EiJ MGP_WSBEiJ_G0034879
 protein coding gene ChrX:63471232-63513372 (+)



Homology
more
  • Human Ortholog
    FMR1, fragile X messenger ribonucleoprotein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FMR1, fragile X messenger ribonucleoprotein 1
  • Synonyms
    FMRP, FRAXA, POF, POF1
  • Links
    NCBI Gene ID: 2332
    neXtProt AC: NX_Q06787
    UniProt: Q06787

  • Chr Location
    Xq27.3; chrX:147911919-147951125 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Fmr1 mouse models; 3 with human FMR1 associations

Human Disease Mouse Models
      
IDs
 View 10 models
IDs
 View 1 model
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 7 alleles in 23 genetic backgrounds
    19 phenotypes from multigenic genotypes
    710 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    243
  • GO References
    40
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    914
  • Tissues
    77
  • cDNA Data
    98
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000000838 Ensembl Gene Model | MGI Sequence Detail 39423 C57BL/6J ±  kb
    transcript ENSMUST00000114655 Ensembl | MGI Sequence Detail 4199 Not Applicable  
    polypeptide ENSMUSP00000110303 Ensembl | MGI Sequence Detail 631 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000003389 fragile X messenger ribonucleoprotein 1
      (term hierarchy)
    • InterPro Domains
      IPR008395 Agenet-like domain
      IPR041560 FMR1, tudor domain
      IPR040148 Fragile X messenger ribonucleoprotein 1
      IPR032196 Fragile X messenger ribonucleoprotein 1, C-terminal region 2
      IPR047431 Fragile X messenger ribonucleoprotein 1, first Tudor-like Agenet domain
      IPR047438 Fragile X messenger ribonucleoprotein 1, first type I K homology domain
      IPR022034 Fragile X messenger ribonucleoprotein 1-like, C-terminal core
      IPR047436 Fragile X messenger ribonucleoprotein 1, second Tudor-like Agenet domain
      IPR047440 Fragile X messenger ribonucleoprotein 1, second type I K homology domain
      IPR004087 K Homology domain
      IPR004088 K Homology domain, type 1
      IPR036612 K Homology domain, type 1 superfamily
      IPR040472 Synaptic functional regulator FMRP, KH0 domain
    • GlyGen
      P35922 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 113
      Genomic 3
      cDNA 103
      Primer pair 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9843, MGD-MRK-9844
    References
    more
    • Summaries
      All 842
      Developmental Gene Expression 34
      Diseases 12
      Gene Ontology 40
      Phenotypes 710
    • Earliest
      J:8706 Mandel JL, et al., Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:195-203
    • Latest
      J:358789 Luo Y, et al., Reduced excitatory activity in the developing mPFC mediates a PV(H)-to-PV(L) transition and impaired social cognition in autism spectrum disorders. Transl Psychiatry. 2024 Aug 6;14(1):325
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory