Dmd MGI Mouse Gene Detail - MGI:94909 - dystrophin, muscular dystrophy

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

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

SNPs within 2kb

8596 from dbSNP Build 142
Strain Annotations

18
RFLP

9

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:2928

NCBI Gene ID: 1756

neXtProt AC: NX_P11532

UniProt: P11532
Chr Location

Xp21.2-p21.1; chrX:31119219-33339609 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 20856
1 human;1 mouse;1 chimpanzee;1 dog;1 chicken
HCOP

human homology predictions: DMD
Protein SuperFamily

dystrophin/utrophin
Gene Tree

Dmd

Diseases

2 with Dmd mouse models; 3 with human DMD associations

Human Disease

Mouse Models

Becker muscular dystrophy

IDs

View 1 model

Duchenne muscular dystrophy

IDs

View 30 models

X-linked dilated cardiomyopathy

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

12 with disease annotations

References

24 with disease annotations

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Phenotype Summary

131 phenotypes from 16 alleles in 26 genetic backgrounds
129 phenotypes from multigenic genotypes
7 images
1163 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

161
Chemically induced (ENU)

4
Endonuclease-mediated

7
Gene trapped

129
Spontaneous

1
Targeted

8
Transgenic

12
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

153 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds.

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All GO Annotations

75
GO References

40

External Resources

FuncBase

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

871
Tissues

149
cDNA Data

28
Literature Summary

48

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dmd.1, dmd.2, dmd.3

ZFIN dmd

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Dmd interacts with 501 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

130
RefSeq

38
UniProt

17
CCDS

CCDS41047.1, CCDS85787.1, CCDS85788.1

Ensembl

ENSMUSG00000045103 (Evidence)
NCBI Gene

13405

			Length	Strain/Species	Flank
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

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UniProt

17 Sequences
Protein Ontology

PR:000006537 dystrophin

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR035436 Dystrophin/utrophin

IPR011992 EF-hand domain pair

IPR015153 EF-hand domain, type 1

IPR015154 EF-hand domain, type 2

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat

IPR001202 WW domain

IPR036020 WW domain superfamily

IPR000433 Zinc finger, ZZ-type

IPR043145 Zinc finger, ZZ-type superfamily

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All nucleic 45

Genomic 4

cDNA 39

Primer pair 1

Other 1

Microarray probesets 5

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

Summaries

All 1394

Developmental Gene Expression 48

Diseases 24

Gene Ontology 40

Phenotypes 1163
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:301991 Mareedu S, et al., Sarcolipin haploinsufficiency prevents dystrophic cardiomyopathy in mdx mice. Am J Physiol Heart Circ Physiol. 2021 Jan 1;320(1):H200-H210

TSS for Dmd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161393	ChrX:82814745-82814758 (+)	-134,118 bp
Tssr161394	ChrX:82814886-82814920 (+)	-133,967 bp
Tssr161395	ChrX:82948861-82948915 (+)	18 bp
Tssr161396	ChrX:82948992-82949023 (+)	138 bp
Tssr161397	ChrX:82949079-82949090 (+)	215 bp
Tssr161401	ChrX:83043101-83043125 (+)	94,243 bp
Tssr161402	ChrX:83043219-83043226 (+)	94,353 bp
Tssr161403	ChrX:83043228-83043240 (+)	94,364 bp
Tssr161404	ChrX:83043292-83043306 (+)	94,429 bp
Tssr161405	ChrX:83043404-83043425 (+)	94,545 bp
Tssr161406	ChrX:83043426-83043431 (+)	94,559 bp
Tssr161407	ChrX:83043455-83043458 (+)	94,587 bp
Tssr161419	ChrX:83855367-83855370 (+)	906,499 bp
Tssr161420	ChrX:83855382-83855399 (+)	906,521 bp
Tssr161421	ChrX:84076588-84076607 (+)	1,127,728 bp
Tssr161422	ChrX:84076617-84076653 (+)	1,127,765 bp
Tssr161424	ChrX:84772701-84772719 (+)	1,823,840 bp
Tssr161425	ChrX:84772723-84772730 (+)	1,823,857 bp
Tssr5645	ChrX:84772744-84772747 (+)	1,823,876 bp
Tssr161426	ChrX:84772762-84772770 (+)	1,823,896 bp
Tssr161427	ChrX:84772800-84772810 (+)	1,823,935 bp
Tssr161428	ChrX:84772812-84772830 (+)	1,823,951 bp
Tssr161429	ChrX:85048284-85048307 (+)	2,099,426 bp
Tssr161430	ChrX:85048309-85048333 (+)	2,099,451 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/06/2021 MGI 6.16