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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
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:82948870-85206141 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 38.38 cM, cytoband C
  • Mapping Data
    64 experiments
  • Sequence Tags
    DXMit8, DXSmh7, DXSmh9
Strain
Comparison
more
  • SNPs within 2kb
    8596 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    9
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_94909
 protein coding gene ChrX:82814664-85206141 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035885
 protein coding gene ChrX:78872833-81267558 (+)
A/J MGP_AJ_G0035870
 protein coding gene ChrX:79058062-81362737 (+)
AKR/J MGP_AKRJ_G0035788
 protein coding gene ChrX:81183502-83532880 (+)
BALB/cJ MGP_BALBcJ_G0035851
 protein coding gene ChrX:77832508-80126989 (+)
C3H/HeJ MGP_C3HHeJ_G0035561
 protein coding gene ChrX:79256112-81574136 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036382
 protein coding gene ChrX:81355326-83791018 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033213
 protein coding gene ChrX:78111220-80280567 (+)
CAST/EiJ MGP_CASTEiJ_G0034850
 protein coding gene ChrX:64182727-66562964 (+)
CBA/J MGP_CBAJ_G0035536
 protein coding gene ChrX:83487453-86043932 (+)
DBA/2J MGP_DBA2J_G0035691
 protein coding gene ChrX:78475214-80792580 (+)
FVB/NJ MGP_FVBNJ_G0035630
 protein coding gene ChrX:77883132-80173273 (+)
LP/J MGP_LPJ_G0035780
 protein coding gene ChrX:79741159-82069257 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035667
 protein coding gene ChrX:86784131-89517485 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036409
 protein coding gene ChrX:78678813-81003693 (+)
PWK/PhJ MGP_PWKPhJ_G0034548
 protein coding gene ChrX:62308474-64594648 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034378
 protein coding gene ChrX:65131088-67472739 (+)
WSB/EiJ MGP_WSBEiJ_G0034989
 protein coding gene ChrX:77589550-79905976 (+)



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
    126 phenotypes from multigenic genotypes
    7 images
    992 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 population 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
    42
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000045103 Ensembl Gene Model | MGI Sequence Detail 2257272 C57BL/6J ±  kb
    transcript ENSMUST00000114000 Ensembl | MGI Sequence Detail 14910 Not Applicable  
    polypeptide ENSMUSP00000109633 Ensembl | MGI Sequence Detail 3678 Not Applicable  
    For the selected sequence
    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 1214
      Developmental Gene Expression 42
      Diseases 21
      Gene Ontology 40
      Phenotypes 992
    • 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:268431 Kang C, et al., Deficit in PINK1/PARKIN-mediated mitochondrial autophagy at late stages of dystrophic cardiomyopathy. Cardiovasc Res. 2018 Jan 1;114(1):90-102
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    01/15/2019
    MGI 6.13     		The Jackson Laboratory