Dmd
Gene Detail

Symbol Name ID

Dmd dystrophin, muscular dystrophy MGI:94909

STS

DXMit8, DXSmh7, DXSmh9

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

Protein SuperFamily: dystrophin/utrophin
Gene Tree: Dmd

Human homologs

Human Homolog		DMD, dystrophin
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:31119222-33339609 (-)  GRCh38
Disease Associations		(3) Diseases Associated with Human DMD

Alleles and phenotypes

All alleles(141) : Chemically induced (ENU)(4) Gene trapped(129) Spontaneous(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 

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 Using Mouse Dmd (2)    Alleles Annotated to Human Diseases(7)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (72 annotations)

Process	cardiac muscle cell action potential, cardiac muscle contraction, ...
Component	cell junction, cell-substrate junction, ...
Function	actin binding, calcium ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (34 records)

Data Summary: Results (96)    Tissues (39)    Images (28)
Theiler Stages: 15, 20, 23

Assay Type	Results
RNA in situ	96

cDNA source data(25)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(39) Genomic(4) cDNA(35)
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 Knockout Project Status	Dmd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017938	VEGA Gene Model | MGI Sequence Detail	2257272	C57BL/6J
transcript	OTTMUST00000043357	VEGA | MGI Sequence Detail	14910	Not Applicable
polypeptide	OTTMUSP00000019485	VEGA | MGI Sequence Detail	3678	Not Applicable

All sequences(122) RefSeq(32) UniProt(8)

Polymorphisms

RFLP(9) : SNPs within 2kb(7066 from dbSNP Build 137)    SNPs within 2kb including multiple locations(7116)

Protein-related information

Resource	ID	Description
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:209577 Saccone V, et al., HDAC-regulated myomiRs control BAF60 variant exchange and direct the functional phenotype of fibro-adipogenic progenitors in dystrophic muscles. Genes Dev. 2014 Apr 15;28(8):841-57
All references(923)

Other accession IDs

MGD-MRK-12180, MGD-MRK-13336, MGD-MRK-8869