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Fmr1 Gene Detail
Summary
  • Symbol
    Fmr1
  • Name
    fragile X mental retardation 1
  • Synonyms
    Fmr-1, FMRP
  • Feature Type
    protein coding gene
  • IDs
    MGI:95564
    NCBI Gene: 14265
  • Gene Overview
    MyGene.info: FMR1
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:68678541-68717963 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 34.83 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    84 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95564
protein coding gene ChrX:68678541-68717963 (.)
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 mental retardation 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FMR1, fragile X mental retardation 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FMRP, FRAXA, POF, POF1
  • Links
    NCBI Gene ID: 2332
    neXtProt AC: NX_Q06787
    UniProt: Q06787

  • Chr Location
    Xq27.3; chrX:147911951-147951127 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 1531
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FMR1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Fmr1 mouse models; 3 with human FMR1 associations

Human Disease Mouse Models
      
IDs
View 9 models
IDs
View 4 models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 6 alleles in 22 genetic backgrounds
    29 phenotypes from multigenic genotypes
    360 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14265 NCBI Gene Model | MGI Sequence Detail 39423 C57BL/6J ±  kb
    transcript NM_008031 RefSeq | MGI Sequence Detail 4426 C57BL/6  
    polypeptide P35922 UniProt | EBI | MGI Sequence Detail 614 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • InterPro Domains
      IPR008395 Agenet-like domain
      IPR022034 Fragile X-related 1 protein, C-terminal core
      IPR032196 Fragile X-related mental retardation protein, C-terminal region 2
      IPR004087 K Homology domain
      IPR004088 K Homology domain, type 1
      IPR036612 K Homology domain, type 1 superfamily
    Molecular
    Reagents
    less
    • All nucleic 112
      Genomic 3
      cDNA 103
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9843, MGD-MRK-9844
    References
    more
    • Summaries
      All 476
      Developmental Gene Expression 21
      Diseases 14
      Gene Ontology 41
      Phenotypes 360
    • 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:266133 Wen TH, et al., Genetic Reduction of Matrix Metalloproteinase-9 Promotes Formation of Perineuronal Nets Around Parvalbumin-Expressing Interneurons and Normalizes Auditory Cortex Responses in Developing Fmr1 Knock-Out Mice. Cereb Cortex. 2018 Nov 1;28(11):3951-3964

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory