Dmd (dystrophin, muscular dystrophy) - Rat Genome Database

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Gene: Dmd (dystrophin, muscular dystrophy) Mus musculus
Symbol: Dmd
Name: dystrophin, muscular dystrophy
RGD ID: 10479
Description: Exhibits nitric-oxide synthase binding activity. Involved in several processes, including muscle cell development; negative regulation of protein modification process; and regulation of cation transmembrane transport. Localizes to several cellular components, including Z disc; dystrophin-associated glycoprotein complex; and sarcolemma. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; musculature; and skin. Used to study Becker muscular dystrophy and Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Dp42; Dp427; Dp7; Dp71; Duchenne muscular dystrophy; DXSmh7; DXSmh9; dy; dys; dystrophin; dystrophin Dp40; dystrophin Dp71; dystrophin Dp71 delta110 isoform; dystrophin Dp71 isoform; dystrophin Dp71a; dystrophin Dp71ab; dystrophin Dp71b; dystrophin Dp71c isoform; dystrophin Dp71d delta71,74 isoform; dystrophin Dp71d delta74 isoform; dystrophin Dp71d(delta71,73-74); dystrophin Dp71f delta71,78 isoform; dystrophin Dp71f delta74 isoform; mdx; pk; pke; X-linked muscular dystrophy
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39X81,858,244 - 84,248,656 (+)NCBIGRCm39mm39
GRCm39 EnsemblX81,992,476 - 84,249,747 (+)Ensembl
GRCm38X82,814,664 - 85,205,050 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX82,948,870 - 85,206,141 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X80,194,209 - 82,450,389 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X79,201,622 - 81,457,760 (+)NCBImm8
CeleraX74,178,103 - 76,399,942 (+)NCBICelera
Cytogenetic MapXC1NCBI
cM MapX38.38NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Animal Disease Models  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (ISO)
Ataxia  (ISO)
autistic disorder  (ISO)
Becker muscular dystrophy  (IEA,ISO)
Benign Pseudohypertrophic Muscular Dystrophy  (ISO)
brain edema  (ISO)
calcinosis  (ISO)
Cardiac Fibrosis  (ISO)
Cardiomegaly  (ISO)
cardiomyopathy  (ISO)
cataract  (IMP)
cognitive disorder  (ISO)
colorectal cancer  (ISO)
congestive heart failure  (ISO)
Dehydration  (ISO)
dilated cardiomyopathy  (ISO)
dilated cardiomyopathy 1A  (ISO)
dilated cardiomyopathy 1B  (ISO)
Dilated Cardiomyopathy with Left Ventricular Noncompaction  (ISO)
Duchenne muscular dystrophy  (IEA,IGI,IMP,ISO)
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  (ISO)
embryonal rhabdomyosarcoma  (ISO)
Exertional Myalgia, Muscle Stiffness and Myoglobinuria  (ISO)
Experimental Seizures  (ISO)
familial hypertrophic cardiomyopathy  (ISO)
Funnel Chest  (ISO)
gastrointestinal stromal tumor  (ISO)
genetic disease  (ISO)
Heart Block  (ISO)
hypertrophic cardiomyopathy  (ISO)
intellectual disability  (ISO)
isolated elevated serum creatine phosphokinase levels  (ISO)
leiomyosarcoma  (ISO)
long QT syndrome  (ISO)
Malformations of Cortical Development, Group II  (ISO)
Muscle Cramp  (ISO)
Muscle Weakness  (ISO)
muscular atrophy  (ISO)
muscular dystrophy  (ISO)
Muscular Dystrophy, Animal  (ISO)
myocarditis  (IMP)
myopathy  (ISO)
Necrosis  (ISO)
Neoplasm Invasiveness  (ISO)
Neoplasm Metastasis  (ISO)
Neurodevelopmental Disorders  (ISO)
ornithine carbamoyltransferase deficiency  (ISO)
polycystic ovary syndrome  (ISO)
restrictive cardiomyopathy  (ISO)
retinal degeneration  (ISO)
schizophrenia  (ISO)
status epilepticus  (ISO)
syndromic X-linked intellectual disability Lubs type  (ISO)
Ventricular Dysfunction  (ISO)
X-linked adrenal hypoplasia congenita  (ISO)
X-linked dilated cardiomyopathy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (ISO)
1,2-dimethylhydrazine  (EXP)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
acetaldehyde  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (ISO)
apocynin  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
cannabidiol  (EXP)
carbon nanotube  (EXP)
clofibrate  (EXP)
copper(II) chloride  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (ISO)
daunorubicin  (ISO)
dibutyl phthalate  (EXP)
dinophysistoxin 1  (ISO)
dioxygen  (EXP)
dobutamine  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (EXP)
etoposide  (ISO)
fenofibrate  (EXP)
flusilazole  (EXP)
folic acid  (EXP)
formaldehyde  (ISO)
geldanamycin  (ISO)
genistein  (ISO)
gentamycin  (EXP,ISO)
graphite  (ISO)
hydrogen peroxide  (ISO)
isoprenaline  (EXP,ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
menadione  (EXP)
methamphetamine  (EXP)
mitomycin C  (ISO)
mitoxantrone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-ethyl-N-nitrosourea  (EXP)
nickel atom  (ISO)
nifedipine  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
pirinixic acid  (EXP)
progesterone  (ISO)
propanal  (ISO)
resveratrol  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (EXP)
spermine  (EXP)
taurine  (EXP)
tetrachloromethane  (EXP)
tioguanine  (ISO)
trichostatin A  (ISO)
triptonide  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vorinostat  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (ISO)
cardiac muscle cell action potential  (IMP)
cardiac muscle contraction  (ISO)
cell differentiation  (ISO)
cellular protein localization  (IMP,ISO)
cellular protein-containing complex assembly  (IMP)
cerebral cortex development  (ISO)
establishment of blood-nerve barrier  (IMP)
establishment of glial blood-brain barrier  (IMP)
muscle cell cellular homeostasis  (IMP)
muscle cell development  (IGI)
muscle cell differentiation  (ISO)
muscle organ development  (IMP)
myotube cell development  (IMP)
negative regulation of ERK1 and ERK2 cascade  (IMP)
negative regulation of neuron differentiation  (ISO)
negative regulation of peptidyl-cysteine S-nitrosylation  (IMP)
negative regulation of peptidyl-serine phosphorylation  (IMP)
neuron differentiation  (ISO)
neuron projection morphogenesis  (ISO)
neurotransmitter receptor metabolic process  (IMP)
nucleus localization  (IMP)
olfactory nerve structural organization  (IMP)
peptide biosynthetic process  (ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of cell-matrix adhesion  (IMP)
positive regulation of neuron differentiation  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of sodium ion transmembrane transporter activity  (IMP)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (IMP)
regulation of cell cycle  (ISO)
regulation of cellular response to growth factor stimulus  (ISO)
regulation of gene expression  (IMP)
regulation of heart rate  (IMP,ISO)
regulation of membrane potential  (IMP)
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (IMP)
regulation of ryanodine-sensitive calcium-release channel activity  (IMP)
regulation of skeletal muscle contraction  (IMP)
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  (IMP)
regulation of transcription, DNA-templated  (IMP)
regulation of voltage-gated calcium channel activity  (IMP)
response to denervation involved in regulation of muscle adaptation  (ISO)
response to muscle stretch  (IMP)
response to water deprivation  (ISO)
skeletal muscle tissue development  (IGI,IMP)
skeletal muscle tissue regeneration  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal atrium myocardial trabeculae morphology  (IAGP)
abnormal auditory brainstem response waveform shape  (IAGP)
abnormal blood circulation  (IAGP)
abnormal breathing pattern  (IAGP)
abnormal calcium level  (IAGP)
abnormal cardiovascular system morphology  (IAGP)
abnormal circulating pyruvate kinase level  (IAGP)
abnormal corticotroph morphology  (IAGP)
abnormal diaphragm morphology  (IAGP)
abnormal digestive system morphology  (IAGP)
abnormal epaxial muscle morphology  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal gait  (IAGP)
abnormal grip strength  (IAGP)
abnormal heart atrium morphology  (IAGP)
abnormal heart echocardiography feature  (IAGP)
abnormal heart ventricle morphology  (IAGP)
abnormal hindlimb morphology  (IAGP)
abnormal hypaxial muscle morphology  (IAGP)
abnormal intercostal muscle morphology  (IAGP)
abnormal limb morphology  (IAGP)
abnormal mitochondrial shape  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal Muller cell morphology  (IAGP)
abnormal muscle contractility  (IAGP)
abnormal muscle development  (IAGP)
abnormal muscle electrophysiology  (IAGP)
abnormal muscle fiber morphology  (IAGP)
abnormal muscle morphology  (IAGP)
abnormal muscle physiology  (IAGP)
abnormal muscle regeneration  (IAGP)
abnormal muscle relaxation  (IAGP)
abnormal muscle tone  (IAGP)
abnormal myocardial fiber morphology  (IAGP)
abnormal myocardial fiber physiology  (IAGP)
abnormal myotube morphology  (IAGP)
abnormal neuromuscular synapse morphology  (IAGP)
abnormal physical strength  (IAGP)
abnormal plasma membrane morphology  (IAGP)
abnormal posture  (IAGP)
abnormal respiratory quotient  (IAGP)
abnormal sarcolemma morphology  (IAGP)
abnormal scalene muscle morphology  (IAGP)
abnormal skeletal muscle fiber morphology  (IAGP)
abnormal skeletal muscle fiber size  (IAGP)
abnormal skeletal muscle fiber type ratio  (IAGP)
abnormal skeletal muscle morphology  (IAGP)
abnormal skeletal muscle regeneration  (IAGP)
abnormal skeletal muscle satellite cell proliferation  (IAGP)
abnormal spine curvature  (IAGP)
abnormal vertebral column morphology  (IAGP)
absent CD4-positive, alpha beta T cells  (IAGP)
absent CD8-positive, alpha-beta T cells  (IAGP)
anterior subcapsular cataract  (IAGP)
calcified muscle  (IAGP)
cardiac fibrosis  (IAGP)
cardiac interstitial fibrosis  (IAGP)
cardiac muscle degeneration  (IAGP)
cardiac muscle necrosis  (IAGP)
cardiomyopathy  (IAGP)
centrally nucleated skeletal muscle fibers  (IAGP)
chromosomal instability  (IAGP)
decreased aerobic running capacity  (IAGP)
decreased B cell number  (IAGP)
decreased body fat mass  (IAGP)
decreased body mass index  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased cardiac muscle contractility  (IAGP)
decreased cardiac output  (IAGP)
decreased cardiac stroke volume  (IAGP)
decreased granulocyte number  (IAGP)
decreased grip strength  (IAGP)
decreased lean body mass  (IAGP)
decreased litter size  (IAGP)
decreased macrophage cell number  (IAGP)
decreased mitochondrial size  (IAGP)
decreased muscle weight  (IAGP)
decreased neutrophil cell number  (IAGP)
decreased P wave amplitude  (IAGP)
decreased physiological sensitivity to xenobiotic  (IAGP)
decreased quadriceps weight  (IAGP)
decreased satellite cell number  (IAGP)
decreased skeletal muscle fiber diameter  (IAGP)
decreased skeletal muscle fiber number  (IAGP)
decreased skeletal muscle fiber size  (IAGP)
decreased skeletal muscle mass  (IAGP)
decreased skeletal muscle weight  (IAGP)
decreased susceptibility to injury  (IAGP)
decreased susceptibility to Picornaviridae infection  (IAGP)
decreased T cell number  (IAGP)
decreased telomere length  (IAGP)
decreased transforming growth factor beta level  (IAGP)
decreased ventricle muscle contractility  (IAGP)
diaphragmitis  (IAGP)
dilated cardiomyopathy  (IAGP)
dilated heart left ventricle  (IAGP)
dilated sarcoplasmic reticulum  (IAGP)
disorganized mitochondrial cristae  (IAGP)
dystrophic cardiac calcinosis  (IAGP)
dystrophic muscle  (IAGP)
enlarged heart  (IAGP)
enlarged myocardial fiber  (IAGP)
extended life span  (IAGP)
fatigue  (IAGP)
heart inflammation  (IAGP)
hypoactivity  (IAGP)
impaired coordination  (IAGP)
impaired exercise endurance  (IAGP)
impaired muscle regeneration  (IAGP)
impaired muscle relaxation  (IAGP)
impaired skeletal muscle contractility  (IAGP)
increased body size  (IAGP)
increased body weight  (IAGP)
increased capillary density  (IAGP)
increased carbon dioxide production  (IAGP)
increased cardiac muscle contractility  (IAGP)
increased circulating creatine kinase level  (IAGP)
increased creatine kinase activity  (IAGP)
increased creatine kinase level  (IAGP)
increased growth hormone level  (IAGP)
increased heart left ventricle size  (IAGP)
increased heart weight  (IAGP)
increased interferon-gamma secretion  (IAGP)
increased interleukin-12 secretion  (IAGP)
increased interleukin-2 secretion  (IAGP)
increased interleukin-4 secretion  (IAGP)
increased interleukin-6 secretion  (IAGP)
increased macrophage cell number  (IAGP)
increased mitochondrial number  (IAGP)
increased monocyte cell number  (IAGP)
increased or absent threshold for auditory brainstem response  (IAGP)
increased oxygen consumption  (IAGP)
increased quadriceps weight  (IAGP)
increased regulatory T cell number  (IAGP)
increased satellite cell number  (IAGP)
increased skeletal muscle fiber diameter  (IAGP)
increased skeletal muscle fiber number  (IAGP)
increased skeletal muscle fiber size  (IAGP)
increased skeletal muscle mass  (IAGP)
increased skeletal muscle weight  (IAGP)
increased somatotroph cell size  (IAGP)
increased susceptibility to injury  (IAGP)
increased susceptibility to noise-induced hearing loss  (IAGP)
increased T cell number  (IAGP)
increased total body fat amount  (IAGP)
increased transforming growth factor beta level  (IAGP)
increased tumor necrosis factor secretion  (IAGP)
increased variability of skeletal muscle fiber size  (IAGP)
kyphosis  (IAGP)
male infertility  (IAGP)
muscle degeneration  (IAGP)
muscle fatigue  (IAGP)
muscle weakness  (IAGP)
muscular atrophy  (IAGP)
myocardial fiber degeneration  (IAGP)
myocardial fiber disarray  (IAGP)
myocarditis  (IAGP)
myocardium necrosis  (IAGP)
myopathy  (IAGP)
myositis  (IAGP)
no abnormal phenotype detected  (IAGP)
nuclear cataract  (IAGP)
oxidative stress  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
preweaning lethality, incomplete penetrance  (IAGP)
progressive muscle weakness  (IAGP)
prolonged P wave  (IAGP)
prolonged QRS complex duration  (IAGP)
reduced female fertility  (IAGP)
reduced fertility  (IAGP)
respiratory failure  (IAGP)
retinal ischemia  (IAGP)
short stride length  (IAGP)
skeletal muscle atrophy  (IAGP)
skeletal muscle degeneration  (IAGP)
skeletal muscle endomysial fibrosis  (IAGP)
skeletal muscle fiber atrophy  (IAGP)
skeletal muscle fiber degeneration  (IAGP)
skeletal muscle fiber necrosis  (IAGP)
skeletal muscle fibrosis  (IAGP)
skeletal muscle hypertrophy  (IAGP)
skeletal muscle interstitial fibrosis  (IAGP)
skeletal muscle necrosis  (IAGP)
slow postnatal weight gain  (IAGP)
thick ventricular wall  (IAGP)
thin diaphragm muscle  (IAGP)
tremors  (IAGP)
ventricular cardiomyopathy  (IAGP)
weakness  (IAGP)
weight loss  (IAGP)

References - curated
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16. Malhotra SB, etal., Science. 1988 Nov 4;242(4879):755-9.
17. MGD and Homologene mouse data transfer
18. MGD data from the GO Consortium
20. Miller G, etal., Hum Mol Genet. 2012 Oct 15;21(20):4508-20. Epub 2012 Jul 18.
21. Nakamura K, etal., Sci Rep. 2014 Jul 9;4:5635. doi: 10.1038/srep05635.
22. OMIM Disease Annotation Pipeline
23. Pipeline to import KEGG annotations from KEGG into RGD
24. RGD automated import pipeline
25. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. RGD automated import pipeline for gene-chemical interactions
27. Spitali P, etal., FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23.
28. Vatta M, etal., J Cardiovasc Med (Hagerstown). 2009 Feb;10(2):149-56. doi: 10.2459/JCM.0b013e328318954c.
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Additional References at PubMed
PMID:1283164   PMID:1301134   PMID:1315657   PMID:1344288   PMID:1352891   PMID:1357549   PMID:1377655   PMID:1406767   PMID:1429837   PMID:1439189   PMID:1454857   PMID:1461282  
PMID:1469448   PMID:1506855   PMID:1543903   PMID:1557078   PMID:1572636   PMID:1572655   PMID:1579466   PMID:1584249   PMID:1625810   PMID:1635838   PMID:1638087   PMID:1639415  
PMID:1661733   PMID:1674728   PMID:1679744   PMID:1684042   PMID:1684949   PMID:1685478   PMID:1686056   PMID:1691450   PMID:1740345   PMID:1757468   PMID:1772416   PMID:1791198  
PMID:1793820   PMID:1824797   PMID:1865908   PMID:1940973   PMID:1964443   PMID:1973136   PMID:1973380   PMID:1974879   PMID:1992296   PMID:2014247   PMID:2022969   PMID:2034278  
PMID:2041548   PMID:2055107   PMID:2144875   PMID:2183043   PMID:2183046   PMID:2250175   PMID:2407807   PMID:2448136   PMID:2561974   PMID:2571569   PMID:2573045   PMID:2662404  
PMID:2721933   PMID:2890215   PMID:2899541   PMID:2903046   PMID:2919177   PMID:2967442   PMID:3209690   PMID:3239377   PMID:3243423   PMID:3243547   PMID:3440862   PMID:3600793  
PMID:3600794   PMID:3607877   PMID:3659917   PMID:3773991   PMID:3962599   PMID:6543918   PMID:6583703   PMID:7477069   PMID:7481760   PMID:7484453   PMID:7498514   PMID:7527970  
PMID:7545544   PMID:7547961   PMID:7561939   PMID:7576492   PMID:7580246   PMID:7581360   PMID:7581361   PMID:7589578   PMID:7589898   PMID:7590750   PMID:7604978   PMID:7604983  
PMID:7608742   PMID:7624335   PMID:7630343   PMID:7633443   PMID:7643878   PMID:7651751   PMID:7659109   PMID:7659114   PMID:7666833   PMID:7673339   PMID:7683332   PMID:7722508  
PMID:7731967   PMID:7753128   PMID:7758695   PMID:7769014   PMID:7777057   PMID:7781901   PMID:7787807   PMID:7797624   PMID:7805729   PMID:7807158   PMID:7823979   PMID:7823981  
PMID:7824089   PMID:7843915   PMID:7844149   PMID:7846762   PMID:7848493   PMID:7849695   PMID:7856727   PMID:7890770   PMID:7894482   PMID:7894483   PMID:7919966   PMID:7919967  
PMID:7919968   PMID:7936429   PMID:7962190   PMID:7962191   PMID:7969238   PMID:7987307   PMID:8000145   PMID:8007658   PMID:8012115   PMID:8021701   PMID:8040390   PMID:8044140  
PMID:8047301   PMID:8052519   PMID:8064326   PMID:8099842   PMID:8111539   PMID:8119949   PMID:8130373   PMID:8158212   PMID:8158216   PMID:8159177   PMID:8159184   PMID:8170492  
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