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Dmd
Gene Detail
Symbol

Name
ID
Dmd
dystrophin, muscular dystrophy
MGI:94909
Synonyms
Dp427, Dp71, Duchenne muscular dystrophy, dys, mdx, pke, X-linked muscular dystrophy
Feature Type
protein coding gene
Genetic Map
Chromosome X
38.38 cM, cytoband C
Detailed Genetic Map ± 1 cM


Mapping data(64)
Sequence Map
ChrX:82948870-85206141 bp, + strand
From VEGA annotation of GRCm38

  2257272 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20856  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 dog; 1 chicken

HCOP human homology predictions: DMD
Protein SuperFamily: dystrophin/utrophin
Gene Tree: Dmd

Human
homologs
DMD, dystrophin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1756
neXtProt AC: NX_P11532

Human Synonyms: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

Human Chr (Location): Xp21.2; chrX:31119219-33339609 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human DMD

Mutations,
alleles, and
phenotypes
All mutations/alleles(142) : Chemically induced (ENU)(4) Gene trapped(129) Spontaneous(1) Targeted(7) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Dmd (2)    Mutations Annotated to Human Diseases (7)    Phenotype Images(2)
Interactions
Dmd interacts with 501 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (77 annotations)
Process cardiac muscle cell action potential, cardiac muscle contraction, ...
Component cell, cell junction, ...
Function actin binding, dystroglycan binding, ...
External Resources: FuncBase
Expression
Literature Summary: (36 records)
Data Summary: Results (223)    Tissues (141)    Images (78)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 165
In situ reporter (knock in) 56
cDNA source data(26)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dmd.1, dmd.2 ; ZFIN dmd    NEW 
Molecular
reagents
All nucleic(43) Genomic(4) cDNA(37) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000017938 (Evidence)
Ensembl Gene Model ENSMUSG00000045103 (Evidence)
Entrez Gene 13405 (Evidence)
DFCI TC1584253, TC1597294, TC1601821, TC1601822, TC1618912, TC1635971, TC1724037, TC1741790
DoTS DT.101724460, DT.111029986, DT.50316551, DT.55116411, DT.91431694, DT.94149289, DT.94243102, DT.94404446, DT.99849020
NIA Mouse Gene Index U019989
Consensus CDS Project CCDS41047.1
International Mouse Phenotyping Consortium Status Dmd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017938 VEGA Gene Model | MGI Sequence Detail 2257272 C57BL/6J ±  kb
transcript OTTMUST00000043357 VEGA | MGI Sequence Detail 14910 Not Applicable 
polypeptide OTTMUSP00000019485 VEGA | MGI Sequence Detail 3678 Not Applicable 

For the selected sequences
All sequences(122) RefSeq(30) UniProt(10)
Polymorphisms
RFLP(9) : SNPs within 2kb(7066 from dbSNP Build 137)    SNPs within 2kb including multiple locations(7116)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR016344 Dystrophin/utrophin
InterPro IPR015153 EF-hand domain, type 1
InterPro IPR015154 EF-hand domain, type 2
InterPro IPR011992 EF-hand-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
InterPro IPR001202 WW domain
InterPro IPR000433 Zinc finger, ZZ-type
Protein Ontology PR:000006537 dystrophin
References
(Earliest) J:15022 Russell LB, HR - tw legs. Mouse News Lett. 1957;17:84
(Latest) J:221708 Wasala NB, et al., The FVB Background Does Not Dramatically Alter the Dystrophic Phenotype of Mdx Mice. PLoS Curr. 2015;7
All references(962)
Disease annotation references (47)
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
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory