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 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:146993469-147032647 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human FMR1

Alleles and phenotypes

All alleles(21) : Targeted(8) Gene trapped(13)
 

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 (2)    Alleles Annotated to Human Diseases(6)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	central nervous system development, mRNA transport, ...
Component	cytoplasm, cytoplasmic stress granule, ...
Function	protein binding, RNA binding

External Resources: FuncBase

Expression

Literature Summary: (12 records)
Data Summary: Results (64)    Tissues (42)    Images (18)
Theiler Stages: 19, 21, 23, 28

Assay Type	Results
RNA in situ	62
RT-PCR	2

cDNA source data(94)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(103) Genomic(3) cDNA(99) 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.111030456, DT.491819, DT.91282438, DT.91442585, DT.99814786
NIA Mouse Gene Index	U019901
Consensus CDS Project	CCDS30171.1
International Mouse Knockout Project Status	Fmr1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017748	VEGA Gene Model | MGI Sequence Detail	39423	C57BL/6J
transcript	OTTMUST00000042972	VEGA | MGI Sequence Detail	4199	Not Applicable
polypeptide	OTTMUSP00000019323	VEGA | MGI Sequence Detail	631	Not Applicable

All sequences(75) RefSeq(2) UniProt(11)

Polymorphisms

RFLP(3) : SNPs(55 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 1 protein

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:194967 Zongaro S, et al., The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse. Hum Mol Genet. 2013 May 15;22(10):1971-82
All references(257)

Other accession IDs

MGD-MRK-9843, MGD-MRK-9844