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Dmd Gene Detail
 Symbol
Name
ID
Dmd
dystrophin, muscular dystrophy
MGI:94909

Nomenclature History
STS DXMit8,DXSmh7,DXSmh9
Synonyms Dp427, Duchenne muscular dystrophy, mdx, pke, X-linked muscular dystrophy
Genetic Map
Chromosome X
32.0 cM, cytoband C
Detailed Genetic Map ± 1 cM
 
Mapping data( 64)

Sequence Map
ChrX:80194209-82451480 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Dmd ± 2 cM)
Protein SuperFamily: dystrophin/utrophin
TreeFam: TF320178
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000017938 VEGA Gene Model | MGI Sequence Detail 2257272 C57BL/6J ± Kb
transcript NM_007868 RefSeq | MGI Sequence Detail 13857 -
polypeptide P11531 UniProt | EBI | MGI Sequence Detail 3678 Not Applicable
For the selected sequences
All sequences(48)
Alleles
and
phenotypes 		All alleles(109) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(99) Spontaneous(1) Chemically induced(4)
Hemizygous males and homozygous mutant females show progressive muscle atrophy, increased K+ and Ca+ in muscle with age, increased blood pyruvate kinase and other symptoms of Duchenne and Becker muscular dystrophy. Alleles vary in severity and may include cardiovascular and digestive system defects.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (5)   Phenotype Images (2)  
Polymorphisms RFLP(9) SNPs within 2kb(6471 from dbSNP Build 128)   SNPs within 2kb including multiple locations(6485)
Gene Ontology
(GO)
classifications
All GO classifications(27)
Process muscle homeostasis, muscle organ development...
Component cell-substrate junction, cytoplasm...
Function actin binding, calcium ion binding...
External Resources: MouseFunc
Expression Literature Summary: (23 records)
Data Summary: Assays (2)    Results (49)    Tissues (30)    Images (5)
Theiler Stages: 15,20,23
  Assay Type Assays   Results
      RNA in situ 2   49
cDNA source data(24)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents 		All nucleic(38) Genomic(4) cDNA(34)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000045103
DoTS DT.101724460, DT.111029986, DT.50316551, DT.55116411, DT.91431694, DT.94149289, DT.94243102
DFCI TC1584253, TC1597294, TC1601821, TC1601822, TC1635971, TC1741790
NIA Mouse Gene Index U019989
Entrez Gene 13405
VEGA Gene Model OTTMUSG00000017938
International Mouse Knockout Project Status Dmd
Protein
domains
InterPro ID Description
IPR000433 Zinc finger, ZZ-type
IPR001202 WW/Rsp5/WWP
IPR001589 Actinin-type, actin-binding, conserved site
IPR001715 Calponin-like actin-binding
IPR002017 Spectrin repeat
IPR011992 EF-hand-like domain
IPR015153 EF-hand domain, type 1
IPR015154 EF-hand domain, type 2
IPR016344 Dystrophin/utrophin
IPR018159 Spectrin/alpha-actinin
Graphical View of Protein Domain Structure
References
(Earliest) J:28684 Moore K et al., "Research News (Dmd)" Mouse News Lett 1981;64():61
(Latest) J:154103 Sene A et al., "Functional implication of Dp71 in osmoregulation and vascular permeability of the retina." PLoS One 2009;4(10):e7329
All references(649)
Other
accession IDs 		MGD-MRK-12180, MGD-MRK-13336, MGD-MRK-8869
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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Send questions and comments to User Support. 		last database update
11/20/2009
MGI_4.31
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