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Fmr1
Gene Detail
 Symbol
Name
ID
Fmr1
fragile X mental retardation syndrome 1
MGI:95564
Synonyms Fmr-1, FMRP
Feature Type protein coding gene
Genetic Map
Chromosome X
34.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
ChrX:68678541-68717963 bp, + strand
From VEGA annotation of GRCm38

  39423 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1531  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Fmr1

Human
homologs
Human Homolog FMR1, fragile X mental retardation 1
NCBI Gene ID 2332
neXtProt AC  NX_Q06787
Human Synonyms  FMRP, FRAXA, POF, POF1
Human Chr (Location)  Xq27.3; chrX:147911951-147951127 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human FMR1
Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Gene trapped(13) Targeted(8)
Incidental mutations (data from APF )
 
Homozygotes 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.
 
Human Diseases Modeled Using Mouse Fmr1 (3)    Alleles Annotated to Human Diseases(6)   
Interactions
Fmr1 interacts with 430 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process central nervous system development, mRNA transport, ...
Component cell body, cytoplasm, ...
Function microtubule binding, poly(A) RNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (64)    Tissues (50)    Images (18)
Theiler Stages: 19, 21, 23, 27, 28
Assay TypeResults
RNA in situ 62
RT-PCR 2
cDNA source data(91)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(100) Genomic(3) cDNA(96) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000017748 (Evidence)
Ensembl Gene ModelENSMUSG00000000838 (Evidence)
Entrez Gene14265 (Evidence)
UniGene3451
DFCITC1575942, TC1641043, TC1764776
DoTSDT.491819, DT.91282438, DT.91442585, DT.99814786
NIA Mouse Gene IndexU019901
Consensus CDS ProjectCCDS30171.1, CCDS72385.1
International Mouse Knockout Project StatusFmr1
Sequences
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 sequences
All sequences(87) RefSeq(14) UniProt(12)
Polymorphisms RFLP(3) : SNPs within 2kb(88 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008395 Agenet-like domain
InterPro IPR022034 Fragile X mental retardation protein family
InterPro IPR004087 K Homology domain
InterPro IPR004088 K Homology domain, type 1
Protein Ontology PR:000003389 fragile X mental retardation protein 1
References (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:211059 Wijetunge LS, et al., Stimulated emission depletion (STED) microscopy reveals nanoscale defects in the developmental trajectory of dendritic spine morphogenesis in a mouse model of fragile X syndrome. J Neurosci. 2014 Apr 30;34(18):6405-12
All references(294)
Disease annotation references (29)
Other
accession IDs
MGD-MRK-9843, MGD-MRK-9844

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory