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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

HCOP human homology predictions: FMR1
Gene Tree: Fmr1

Human
homologs
FMR1, fragile X mental retardation 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2332
neXtProt AC: NX_Q06787

Human Synonyms: FMRP, FRAXA, POF, POF1

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

Disease Associations: (3) Diseases Associated with Human FMR1

Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Gene trapped(13) Targeted(8) Transgenic(1)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Fmr1 (3)    Mutations Annotated to Human Diseases (7)   
Interactions
Fmr1 interacts with 430 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process central nervous system development, dendritic spine development, ...
Component axon, cell body, ...
Function microtubule binding, mRNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (15 records)
Data Summary: Results (64)    Tissues (50)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 62
RT-PCR 2
cDNA source data(91)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA FMR1 ; Xenbase fmr1 ; ZFIN fmr1    NEW 
Molecular
reagents
All nucleic(100) Genomic(3) cDNA(96) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000017748 (Evidence)
Ensembl Gene Model ENSMUSG00000000838 (Evidence)
Entrez Gene 14265 (Evidence)
UniGene 3451
DFCI TC1575942, TC1641043, TC1764776
DoTS DT.491819, DT.91282438, DT.91442585, DT.99814786
NIA Mouse Gene Index U019901
Consensus CDS Project CCDS30171.1, CCDS72385.1
International Mouse Phenotyping Consortium Status Fmr1
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:221131 Ghilan M, et al., Enhanced corticosteroid signaling alters synaptic plasticity in the dentate gyrus in mice lacking the fragile X mental retardation protein. Neurobiol Dis. 2015 May;77:26-34
All references(321)
Disease annotation references (35)
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
07/21/2015
MGI 5.22
The Jackson Laboratory