Dmd^mdx
Spontaneous Allele Detail

Summary

• Symbol: Dmd^mdx
• Name: dystrophin, muscular dystrophy; X linked muscular dystrophy
• MGI ID: MGI:1856328
• Synonyms: mdx, pke, pyruvate kinase expression
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^mdx page

Dmd^mdx/? Myod1^tm1Jae/Myod1^tm1Jae mice develop cardiomyopathy

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/10ScSn

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T substitution in the CAA codon in exon 23 (ENSMUST00000114000 chrX:g.83803333C>T; c.2983C>T; p.Q995*) results in a termination codon (TAA) in place of a glutamine codon. This allele is predicted to produce a truncated protein. (J:9866, J:40541, J:102707)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Dmd^mdx/Dmd^mdx	C57BL/10ScSn-Dmd^mdx
hm2  Disease Model	Dmd^mdx/Dmd^mdx	C57BL/10ScSn-Dmd^mdx/J
hm3  Disease Model	Dmd^mdx/Dmd^mdx	D2.B10-Dmd^mdx
hm4  Disease Model	Dmd^mdx/Dmd^mdx	D2.B10-Dmd^mdx/J
hm5	Dmd^mdx/Dmd^mdx	involves: BALB/c * C57BL/10ScSn * C57BL/Ka
hm6	Dmd^mdx/Dmd^mdx	involves: C57BL/10ScSn
ht7	Dmd^mdx/Dmd^+	involves: 129S4/SvJae * C57BL/10ScSn
ht8	Dmd^mdx/Dmd^+	involves: C57BL/10ScSn
cx9	Dmd^mdx/Dmd^mdx Mmp9^tm1Tvu/Mmp9^tm1Tvu	B10.Cg-Mmp9^tm1Tvu Dmd^mdx
cx10	Dmd^mdx/Dmd^mdx Mmp9^tm1Tvu/Mmp9^+	B10.Cg-Mmp9^tm1Tvu Dmd^mdx
cx11	Creb1^tm1.1Berd/Creb1^tm1.1Berd Dmd^mdx/Y	B.Cg-Creb1^tm1.1Berd Dmd^mdx
cx12  Disease Model	Barx2^tm1Rsd/Barx2^tm1Rsd Dmd^mdx/Dmd^mdx	involves: 129 * C57BL/6 * C57BL/10ScSn
cx13	Dmd^mdx/Dmd^mdx Mamstr^tm1.2Eno/Mamstr^tm1.2Eno	involves: 129 * C57BL/6 * C57BL/10ScSn
cx14  Disease Model	Barx2^tm1Rsd/Barx2^tm1Rsd Dmd^mdx/Y	involves: 129 * C57BL/6 * C57BL/10ScSn
cx15  Disease Model	Dmd^mdx/Y Tg(DMD*)#Spc/0	involves: 129P2/OlaHsd * C57BL/10ScSn * DBA/2
cx16	Dmd^mdx/? Fgf2^tm1Zllr/Fgf2^tm1Zllr Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/10ScSn
cx17  Disease Model	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
cx18  Disease Model	Dmd^mdx/Dmd^mdx Utrn^tm1Jrs/Utrn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
cx19  Disease Model	Dmd^mdx/Y Utrn^tm1Jrs/Utrn^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
cx20	Dmd^mdx/? Fgf2^tm1Zllr/Fgf2^tm1Zllr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn
cx21  Disease Model	Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA
cx22	Ctss^tm1Hap/Ctss^tm1Hap Dmd^mdx/Dmd^mdx	involves: 129S2/SvPas * C57BL/10ScSn
cx23	Dmd^mdx/Dmd^mdx Dusp1^tm1Brv/Dusp1^tm1Brv	involves: 129S2/SvPas * C57BL/6 * C57BL/10ScSn
cx24	Cav3^tm1Ncnp/Cav3^+ Dmd^mdx/Dmd^mdx	involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn
cx25	Dmd^mdx/Dmd^+ Nos1^tm1Plh/Nos1^tm1Plh	involves: 129S4/SvJae * C57BL/10ScSn
cx26	Dmd^mdx/Dmd^+ Foxk1^tm1Djg/Foxk1^+	involves: 129S4/SvJae * C57BL/10ScSn
cx27  Disease Model	Dmd^mdx/? Myod1^tm1Jae/Myod1^tm1Jae	involves: 129S4/SvJae * C57BL/10ScSn
cx28	Dmd^mdx/Y Nos1^tm1Plh/Nos1^tm1Plh	involves: 129S4/SvJae * C57BL/10ScSn
cx29  Disease Model	Dmd^mdx/Dmd^mdx Foxk1^tm1Djg/Foxk1^tm1Djg	involves: 129S4/SvJae * C57BL/10ScSn
cx30  Disease Model	Dmd^mdx/Y Foxk1^tm1Djg/Foxk1^tm1Djg	involves: 129S4/SvJae * C57BL/10ScSn
cx31	Dmd^mdx/? Fgf6^tm1Thbr/Fgf6^tm1Thbr	involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn
cx32	Dag1^tm1.1Swin/Dag1^tm1.1Swin Dmd^mdx/Y	involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn
cx33	Dag1^tm1.1Swin/Dag1^tm1.1Swin Dmd^mdx/Dmd^mdx	involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn
cx34	Dmd^mdx/Dmd^mdx Spp1^tm1Blh/Spp1^tm1Blh	involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn
cx35	Dmd^mdx/Y Spp1^tm1Blh/Spp1^tm1Blh	involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn
cx36  Disease Model	Dmd^mdx/Y Terc^tm1Rdp/Terc^tm1Rdp	involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL
cx37	Dmd^mdx/Y Terc^tm1Rdp/Terc^+	involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL
cx38  Disease Model	Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs	involves: 129X1/SvJ * C57BL/10ScSn
cx39	Cmah^tm1Avrk/Cmah^tm1Avrk Dmd^mdx/Dmd^mdx	involves: 129X1/SvJ * C57BL/10ScSn
cx40	Dmd^mdx/Dmd^mdx Prkdc^scid/Prkdc^scid	involves: BALB/c * C57BL/10ScSn * C57BL/Ka
cx41	Dmd^mdx/Dmd^mdx Tg(ACTA1-SSPN)3.0Rcros/0	involves: C57BL/10ScSn
cx42	Dmd^mdx/Y Foxn1^nu/Foxn1^nu	involves: C57BL/10ScSn
cx43	Dmd^mdx/Y Mirc37^tm1Boet/Mirc37^tm1Boet	involves: C57BL/10ScSn
cx44	Dmd^mdx/Dmd^mdx Selenos^tm1.1Sfa/Selenos^+	involves: C57BL/6 * C57BL/10ScSn
cx45	Dmd^mdx/Dmd^mdx Snhg15^tm1Nju/Snhg15^tm1Nju	involves: C57BL/6J * C57BL/10ScSn
ot46  Disease Model	Dmd^mdx/Y	C57BL/10ScSn-Dmd^mdx
ot47  Disease Model	Dmd^mdx/Y	C57BL/10ScSn-Dmd^mdx/J
ot48	Dmd^mdx/Y	involves: 129S4/SvJae * C57BL/10ScSn
ot49	Dmd^mdx/Y	involves: C57BL/10ScSn
ot50	Dmd^mdx/?	B6.B10ScSn-Dmd^mdx

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4		hm5	hm6	ht7	ht8	cx9	cx10	cx11	cx12	cx13	cx14	cx15	cx16	cx17	cx18	cx19	cx20	cx21	cx22	cx23	cx24	cx25	cx26	cx27	cx28	cx29	cx30	cx31	cx32	cx33	cx34	cx35	cx36	cx37	cx38	cx39	cx40	cx41	cx42	cx43	cx44	cx45	ot46	ot47	ot48	ot49	ot50
show or hide all annotated terms Sex:
adipose tissue	N		√																																												√
adipose tissue phenotype	N
increased total body fat amount			√
decreased body fat mass																																															√
behavior/neurological	√	√	√	√	√	√							√		√				√			√	√	√						√	√				√	√	√			√	√						√	√
behavior/neurological phenotype																																															N
abnormal motor capabilities/coordination/movement																																																√
tremors																																																√
impaired coordination		√																																						√								√
abnormal physical strength																																			√	√
abnormal grip strength		√
decreased grip strength		√		√	√																			√																							√
weakness																														√	√
abnormal posture																						√
abnormal gait													√		√				√			√																		√							√
short stride length																																															√
decreased locomotor activity													√		√							√								√	√
fatigue																																															√
impaired exercise endurance						√																	√														√				√
decreased aerobic running capacity	√		√
cardiovascular system	√	√		√	√													√	√									√											√	√							√
cardiovascular system phenotype		N
abnormal myocardial fiber morphology																																															√
increased myocardial fiber size																												√
myocardial fiber degeneration																																															√
myocardial fiber disarray	√
cardiac muscle degeneration				√	√
cardiac muscle necrosis																																								√
myocardium necrosis	√																		√									√
abnormal heart atrium morphology	√																																														√
abnormal atrium myocardial trabeculae morphology	√																																														√
enlarged heart		√
increased heart weight																												√
abnormal heart ventricle morphology																												√
thick ventricular wall	√																																														√
cardiac fibrosis																												√
cardiac interstitial fibrosis																												√
dystrophic cardiac calcinosis				√	√
decreased cardiac output		√		√	√
decreased cardiac stroke volume		√		√	√
decreased cardiac muscle contractility		√		√	√
cardiomyopathy		√		√	√													√	√																				√
dilated cardiomyopathy																												√
heart inflammation				√	√
cellular							√							√														√									√
cardiac interstitial fibrosis																												√
decreased telomere length																																					√
abnormal skeletal muscle satellite cell proliferation							√							√
chromosomal instability																																					√
endocrine/exocrine glands	√
abnormal corticotroph morphology	√
increased somatotroph cell size	√
growth/size/body		√	√	√	√		√						√	√	√			√	√			√		√			√	√																	√	N	√
growth/size/body region phenotype																																														N
decreased body fat mass																																															√
enlarged heart		√
increased heart weight																												√
decreased body mass index																																													√
decreased lean body mass																																													√
abnormal scalene muscle morphology							√
decreased body size				√	√								√		√				√					√			√
decreased body weight			√											√										√																							√
weight loss																						√
increased body size		√
postnatal growth retardation																		√	√
hearing/vestibular/ear		√
abnormal auditory brainstem response waveform shape		√
increased or absent threshold for auditory brainstem response		√
increased susceptibility to noise-induced hearing loss		√
hematopoietic system										√	√																								√	√				√	√
decreased granulocyte number																																			√	√
decreased neutrophil cell number																																			√	√
decreased B cell number																																									√
decreased T cell number																																			√	√
absent CD4-positive, alpha-beta T cells																																									√
absent CD8-positive, alpha-beta T cells																																									√
increased T cell number																																			√	√
increased regulatory T cell number																																			√	√
decreased macrophage cell number										√	√
increased macrophage cell number																																								√
increased monocyte cell number																																								√
homeostasis/metabolism	√	√	√	√	√	√	√	√								√							√			√			√				√	√			√	√			√			√	√			√	√
homeostasis/metabolism phenotype	N
impaired exercise endurance						√																	√														√				√
decreased aerobic running capacity	√		√
increased circulating creatine kinase level	√	√		√	√																		√										√	√			√	√										√
abnormal circulating pyruvate kinase level	√	√						√																		√			√																			√	√
increased carbon dioxide production																																													√
increased oxygen consumption																																													√
abnormal respiratory quotient																																													√
increased growth hormone level	√
abnormal calcium level																√
decreased transforming growth factor beta level																																									√
increased transforming growth factor beta level						√
increased creatine kinase activity		√		√	√																																							√
decreased physiological sensitivity to xenobiotic							√
increased susceptibility to injury																																	√	√
immune system		√		√	√					√	√					√				√				√											√	√	√			√	√							√		√
heart inflammation				√	√
decreased granulocyte number																																			√	√
decreased neutrophil cell number																																			√	√
decreased B cell number																																									√
decreased T cell number																																			√	√
absent CD4-positive, alpha-beta T cells																																									√
absent CD8-positive, alpha-beta T cells																																									√
increased T cell number																																			√	√
increased regulatory T cell number																																			√	√
decreased macrophage cell number										√	√
increased macrophage cell number																																								√
increased monocyte cell number																																								√
increased interferon-gamma secretion		√																																														√
increased interleukin-12 secretion		√																																														√
increased interleukin-2 secretion		√																																														√
increased interleukin-4 secretion		√																																														√
increased interleukin-6 secretion		√																																														√
increased tumor necrosis factor secretion		√																																														√
diaphragmitis																				√																														√
myositis		√		√	√											√				√				√													√													√
limbs/digits/tail	√		√															√	√			√
abnormal limb morphology																		√	√
abnormal hindlimb morphology																						√
decreased quadriceps weight			√
increased quadriceps weight	√
mortality/aging													√		√			√	√			√						√		√	√						√		√	√
premature death																		√	√			√						√		√	√						√		√	√
postnatal lethality, incomplete penetrance													√		√			√												√	√
muscle	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√
muscle phenotype	N																N															N													N	N	N
abnormal muscle morphology	√	√								√	√																																√					√
abnormal atrium myocardial trabeculae morphology	√																																														√
cardiac muscle necrosis																																								√
myocardium necrosis	√																		√									√
abnormal muscle development	√																								√																						√
abnormal myotube morphology	√																																														√
abnormal muscle fiber morphology																									√
abnormal myocardial fiber morphology																																															√
increased myocardial fiber size																												√
myocardial fiber degeneration																																															√
myocardial fiber disarray	√
abnormal sarcolemma morphology																																										√
dilated sarcoplasmic reticulum	√	√					√																																									√
decreased muscle weight													√		√
abnormal skeletal muscle morphology							√										√																				√														√
abnormal scalene muscle morphology							√
abnormal skeletal muscle fiber morphology	√	√			√		√		√								√					√	√																								√	√		√	√
abnormal skeletal muscle fiber size																						√
decreased skeletal muscle fiber size				√	√																			√																			√
decreased skeletal muscle fiber diameter				√	√																			√
skeletal muscle fiber atrophy				√	√
increased skeletal muscle fiber size																																											√
increased skeletal muscle fiber diameter		√				√	√																																		√									√
increased variability of skeletal muscle fiber size	√	√											√		√		√																				√									√		√
centrally nucleated skeletal muscle fibers	√	√		√	√	√	√															√	√		√								√	√			√	√			√	√					√			√
decreased skeletal muscle fiber number			√
increased skeletal muscle fiber number	√
abnormal epaxial muscle morphology																																√
abnormal hypaxial muscle morphology																																√
decreased quadriceps weight			√
increased quadriceps weight	√
abnormal diaphragm morphology							√						√		√																	√					√	√												√
thin diaphragm muscle													√		√
abnormal intercostal muscle morphology	√						√																		√																						√			√
abnormal skeletal muscle fiber type ratio																																													√
decreased skeletal muscle mass			√	√	√
decreased skeletal muscle weight			√											√										√
skeletal muscle atrophy				√	√
increased skeletal muscle mass	√	√					√																																											√
increased skeletal muscle weight	√
skeletal muscle hypertrophy		√					√																																											√
decreased satellite cell number																	√																				√
skeletal muscle fibrosis	√	√	√			√							√	√	√	√							√							√	√						√			√	√					√	√	√
skeletal muscle endomysial fibrosis							√						√		√					√																														√
skeletal muscle interstitial fibrosis																			√			√
skeletal muscle necrosis	√	√					√											√	√			√					√			√	√						√											√		√
skeletal muscle fiber necrosis	√						√						√		√		√						√																								√			√
calcified muscle		√		√	√																																√
dystrophic muscle	√	√		√	√			√								√	√	√	√		√	√	√	√		√			√			√					√		√	√		√		√				√	√		√
muscle degeneration	√	√												√					√																													√
cardiac muscle degeneration				√	√
skeletal muscle degeneration		√		√	√							√																									√
skeletal muscle fiber degeneration						√																		√																	√						√
muscular atrophy	√	√																																			√											√
abnormal muscle physiology		√					√				√						√		√																√	√	√	√										√
cardiomyopathy		√		√	√													√	√																				√
dilated cardiomyopathy																												√
abnormal skeletal muscle satellite cell proliferation							√							√
diaphragmitis																				√																														√
myositis		√		√	√											√				√				√													√													√
abnormal muscle contractility							√																																								√
decreased cardiac muscle contractility		√		√	√
impaired skeletal muscle contractility		√		√	√	√																																			√						√
abnormal muscle electrophysiology							√																														√													√
abnormal skeletal muscle regeneration		√		√	√
enhanced skeletal muscle regeneration										√	√	√
impaired skeletal muscle regeneration													√		√																															√
abnormal muscle relaxation																			√
impaired muscle relaxation																																															√
abnormal muscle tone							√																																											√
muscle weakness			√																√																		√			√
progressive muscle weakness													√		√							√
myopathy	√	√																														√																√
nervous system	√						√											√	√			√																	√											√
nervous system phenotype							N																																											N
abnormal corticotroph morphology	√
increased somatotroph cell size	√
abnormal neuromuscular synapse morphology							√											√	√			√																	√											√
reproductive system	√	√																																							√
reduced fertility																																									√
reduced female fertility	√	√
respiratory system																						√															√
abnormal breathing pattern																						√
respiratory failure																																					√
skeleton						√							√		√		√	√	√			√										√					√				√
abnormal vertebral column morphology						√																																			√
abnormal spine curvature																	√															√
kyphosis													√		√			√	√			√															√
vision/eye							√																																											√
vision/eye phenotype																																																		N
nuclear cataract							√																																											√
anterior subcapsular cataract							√																																											√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm2	hm3	hm4	cx12	cx14	cx15	cx17	cx18	cx19	cx21	cx27	cx29	cx30	cx36	cx38	ot46	ot47
Duchenne muscular dystrophy IDs Duchenne muscular dystrophy       DOID:11723 MESH:D020388 NCI:C75482 OMIM:310200 UMLS_CUI:C0013264 Close	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√	√

Expression

In Mice Carrying this Mutation:	121 assay results 33 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Dmd^mdx

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 31 strains available Cell Lines: 0 lines available
• Carrying any Dmd Mutation: 156 strains or lines available

References

• Original: J:28684 Moore K, et al., Research News (Dmd). Mouse News Lett. 1981;64:61
• All: 1325 reference(s)