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
Alliance

gene page
Transcription Start Sites

43 TSS

Sequence Map

ChrX:81992476-84249747 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 38.38 cM, cytoband C
Mapping Data

64 experiments

SNPs within 2kb

45238 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:81858244-84249747 (+)
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

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DMD, dystrophin
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:31097677-33339609 (-) GRCh38

MGI Vertebrate Homology

Dmd stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DMD
Protein SuperFamily

Dystrophin/utrophin
Gene Tree

Dmd

Diseases

2 with Dmd mouse models; 6 with human DMD associations

Human Disease

Mouse Models

Becker muscular dystrophy

IDs

View 1 model

Duchenne muscular dystrophy

IDs

View 30 models

cognitive disorder

IDs

dilated cardiomyopathy

IDs

intellectual disability

IDs

X-linked dilated cardiomyopathy

IDs

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

Mutations/Alleles

11 with disease annotations

References

24 with disease annotations

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Phenotype Summary

144 phenotypes from 17 alleles in 27 genetic backgrounds
128 phenotypes from multigenic genotypes
7 images
1497 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

126
Chemically induced (ENU)

4
Endonuclease-mediated

16
Gene trapped

91
Spontaneous

1
Targeted

8
Transgenic

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

154 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

155
GO References

52

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

1003
Tissues

165
cDNA Data

29
Literature Summary

64

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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All Sequences

135
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

IPR050774 KCMF1 and Dystrophin

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
GlyGen

P11531 5 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (2 sites)

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All nucleic 48

Genomic 4

cDNA 40

Primer pair 3

Other 1

Microarray probesets 5

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

Summaries

All 1750

Developmental Gene Expression 64

Diseases 24

Gene Ontology 52

Phenotypes 1497
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:353812 Kitajima Y, et al., Loss of Tob1 promotes muscle regeneration through muscle stem cell expansion. J Cell Sci. 2024 Aug 1;137(15):jcs261886

TSS for Dmd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161395	ChrX:81992467-81992521 (+)	18 bp
Tssr161396	ChrX:81992598-81992629 (+)	138 bp
Tssr161397	ChrX:81992685-81992696 (+)	215 bp
Tssr161398	ChrX:81994140-81994144 (+)	1,666 bp
Tssr161399	ChrX:81997808-81997810 (+)	5,333 bp
Tssr161400	ChrX:82004168-82004197 (+)	11,707 bp
Tssr161401	ChrX:82086707-82086731 (+)	94,243 bp
Tssr161402	ChrX:82086825-82086832 (+)	94,353 bp
Tssr161403	ChrX:82086834-82086846 (+)	94,364 bp
Tssr161404	ChrX:82086898-82086912 (+)	94,429 bp
Tssr161405	ChrX:82087010-82087031 (+)	94,545 bp
Tssr161406	ChrX:82087032-82087037 (+)	94,559 bp
Tssr161407	ChrX:82087061-82087064 (+)	94,587 bp
Tssr161408	ChrX:82113012-82113015 (+)	120,538 bp
Tssr161409	ChrX:82126016-82126022 (+)	133,543 bp
Tssr161410	ChrX:82131405-82131406 (+)	138,930 bp
Tssr161411	ChrX:82160401-82160412 (+)	167,931 bp
Tssr161412	ChrX:82266149-82266153 (+)	273,675 bp
Tssr161413	ChrX:82419957-82419959 (+)	427,482 bp
Tssr161414	ChrX:82626609-82626621 (+)	634,139 bp
Tssr161415	ChrX:82632089-82632104 (+)	639,621 bp
Tssr5643	ChrX:82633227-82633233 (+)	640,754 bp
Tssr161416	ChrX:82635543-82635549 (+)	643,070 bp
Tssr161417	ChrX:82635737-82635743 (+)	643,264 bp
Tssr161418	ChrX:82637497-82637502 (+)	645,024 bp
Tssr5644	ChrX:82823447-82823454 (+)	830,975 bp
Tssr161419	ChrX:82898973-82898976 (+)	906,499 bp
Tssr161420	ChrX:82898988-82899005 (+)	906,521 bp
Tssr161421	ChrX:83120194-83120213 (+)	1,127,728 bp
Tssr161422	ChrX:83120223-83120259 (+)	1,127,765 bp
Tssr161423	ChrX:83152908-83152912 (+)	1,160,434 bp
Tssr161424	ChrX:83816307-83816325 (+)	1,823,840 bp
Tssr161425	ChrX:83816329-83816336 (+)	1,823,857 bp
Tssr5645	ChrX:83816350-83816353 (+)	1,823,876 bp
Tssr161426	ChrX:83816368-83816376 (+)	1,823,896 bp
Tssr161427	ChrX:83816406-83816416 (+)	1,823,935 bp
Tssr161428	ChrX:83816418-83816436 (+)	1,823,951 bp
Tssr161429	ChrX:84091890-84091913 (+)	2,099,426 bp
Tssr161430	ChrX:84091915-84091939 (+)	2,099,451 bp
Tssr5646	ChrX:84231951-84231954 (+)	2,239,477 bp
Tssr161431	ChrX:84246225-84246237 (+)	2,253,755 bp
Tssr161432	ChrX:84246274-84246291 (+)	2,253,807 bp
Tssr161433	ChrX:84246338-84246358 (+)	2,253,872 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)
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