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Dmd Gene Detail
Summary
  • Symbol
    Dmd
  • Name
    dystrophin, muscular dystrophy
  • Synonyms
    Dp427, Dp71, Duchenne muscular dystrophy, dys, mdx, pke, X-linked muscular dystrophy
  • Feature Type
    protein coding gene
  • IDs
    MGI:94909
    NCBI Gene: 13405
  • Gene Overview
    MyGene.info: DMD
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    ChrX:82948870-85206141 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      2257272 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 38.38 cM, cytoband C
  • Mapping Data
    64 experiments
  • Sequence Tags
    DXMit8, DXSmh7, DXSmh9
Homology
more
  • Human Ortholog
    DMD, dystrophin
  • Vertebrate Orthologs
    5
  • Human Ortholog
    DMD, dystrophin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
  • Links
    NCBI Gene ID: 1756
    neXtProt AC: NX_P11532
    UniProt: P11532

  • Chr Location
    Xp21.2-p21.1; chrX:31119219-33339609 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Dmd mouse models; 3 with human DMD associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 26 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    21 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    130 phenotypes from 14 alleles in 25 genetic backgrounds
    120 phenotypes from multigenic genotypes
    7 images
    980 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    75
  • GO References
    40
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    232
  • Tissues
    143
  • cDNA Data
    27
  • Literature Summary
    43
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      8596 from dbSNP Build 142
    • RFLP
      9
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 4
      cDNA 38
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12180, MGD-MRK-13336, MGD-MRK-8869
    References
    more
    • Summaries
      All 1202
      Developmental Gene Expression 43
      Diseases 21
      Gene Ontology 40
      Phenotypes 980
    • Earliest
      J:7361 Bulfield G, et al., X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A. 1984 Feb;81(4):1189-92
    • Latest
      J:264559 Barzilai-Tutsch H, et al., A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice. Hum Mol Genet. 2018 Aug 15;27(16):2817-2829
    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
    10/16/2018
    MGI 6.12     		The Jackson Laboratory