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

    Mouse Genome Browser

  • Download
    Sequence
      39423 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 34.83 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    FMR1, fragile X mental retardation 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FMR1, fragile X mental retardation 1
    Orthology source: HomoloGene
  • Synonyms
    FMRP, FRAXA, POF, POF1
  • Links
    NCBI Gene ID: 2332
    neXtProt AC: NX_Q06787

  • Chr Location
    Xq27.3; chrX:147911951-147951127 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1531
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Fragile X Mental Retardation Syndrome   OMIM: 300624 View 8 models
Fragile X Tremor/Ataxia Syndrome; FXTAS   OMIM: 300623 View 4 models
       Autism   OMIM: 209850 View 2 models
       Premature Ovarian Failure 1; POF1   OMIM: 311360
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    54 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 6 alleles in 22 genetic backgrounds
    29 phenotypes from multigenic genotypes
    274 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.
  • All Mutations and Alleles
    23
  • Gene trapped
    13
  • Targeted
    8
  • Transgenic
    2
  • Incidental Mutations
    APF , CvDC
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017748 VEGA Gene Model | MGI Sequence Detail 39423 C57BL/6J ±  kb
transcript OTTMUST00000042972 VEGA | MGI Sequence Detail 4199 Not Applicable  
polypeptide OTTMUSP00000019323 VEGA | MGI Sequence Detail 631 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    84 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000003389 fragile X mental retardation protein 1
  • 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
Molecular
Reagents
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  • All nucleic 100
    Genomic 3
    cDNA 96
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9843, MGD-MRK-9844
References
more
  • Summaries
    All 366
    Developmental Gene Expression 17
    Diseases 54
    Gene Ontology 34
    Phenotypes 274
  • 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:232349 Hulbert SW, et al., Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links. Neuroscience. 2016 May 3;321:3-23

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
08/17/2016
MGI 6.05
The Jackson Laboratory