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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dmdmdx
X linked muscular dystrophy
MGI:1856328
Summary 50 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dmdmdx/Dmdmdx C57BL/10ScSn-Dmdmdx MGI:4359195
hm2
Dmdmdx/Dmdmdx C57BL/10ScSn-Dmdmdx/J MGI:3621491
hm3
Dmdmdx/Dmdmdx D2.B10-Dmdmdx MGI:5688354
hm4
Dmdmdx/Dmdmdx D2.B10-Dmdmdx/J MGI:5697652
hm5
Dmdmdx/Dmdmdx involves: BALB/c * C57BL/10ScSn * C57BL/Ka MGI:5490615
hm6
Dmdmdx/Dmdmdx involves: C57BL/10ScSn MGI:2654139
ht7
Dmdmdx/Dmd+ involves: 129S4/SvJae * C57BL/10ScSn MGI:4366785
ht8
Dmdmdx/Dmd+ involves: C57BL/10ScSn MGI:4360111
cx9
Dmdmdx/Dmdmdx
Mmp9tm1Tvu/Mmp9tm1Tvu
B10.Cg-Mmp9tm1Tvu Dmdmdx MGI:4367735
cx10
Dmdmdx/Dmdmdx
Mmp9tm1Tvu/Mmp9+
B10.Cg-Mmp9tm1Tvu Dmdmdx MGI:4367736
cx11
Creb1tm1.1Berd/Creb1tm1.1Berd
Dmdmdx/Y
B.Cg-Creb1tm1.1Berd Dmdmdx MGI:5299346
cx12
Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Y
involves: 129 * C57BL/6 * C57BL/10ScSn MGI:5439173
cx13
Dmdmdx/Dmdmdx
Mamstrtm1.2Eno/Mamstrtm1.2Eno
involves: 129 * C57BL/6 * C57BL/10ScSn MGI:5313412
cx14
Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Dmdmdx
involves: 129 * C57BL/6 * C57BL/10ScSn MGI:5439179
cx15
Dmdmdx/Y
Tg(DMD*)#Spc/0
involves: 129P2/OlaHsd * C57BL/10ScSn * DBA/2 MGI:6507848
cx16
Dmdmdx/?
Fgf2tm1Zllr/Fgf2tm1Zllr
Fgf6tm1Thbr/Fgf6tm1Thbr
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/10ScSn MGI:3716189
cx17
Dmdmdx/Dmdmdx
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn MGI:2176876
cx18
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn MGI:2176891
cx19
Dmdmdx/Y
Utrntm1Jrs/Utrn+
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn MGI:5795669
cx20
Dmdmdx/?
Fgf2tm1Zllr/Fgf2tm1Zllr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn MGI:3716196
cx21
Dmdmdx/Dmdmdx
Utrntm1Ked/Utrntm1Ked
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA MGI:2176879
cx22
Ctsstm1Hap/Ctsstm1Hap
Dmdmdx/Dmdmdx
involves: 129S2/SvPas * C57BL/10ScSn MGI:5779560
cx23
Dmdmdx/Dmdmdx
Dusp1tm1Brv/Dusp1tm1Brv
involves: 129S2/SvPas * C57BL/6 * C57BL/10ScSn MGI:4940318
cx24
Cav3tm1Ncnp/Cav3+
Dmdmdx/Dmdmdx
involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn MGI:6114163
cx25
Dmdmdx/Dmd+
Nos1tm1Plh/Nos1tm1Plh
involves: 129S4/SvJae * C57BL/10ScSn MGI:4366782
cx26
Dmdmdx/Y
Nos1tm1Plh/Nos1tm1Plh
involves: 129S4/SvJae * C57BL/10ScSn MGI:4366781
cx27
Dmdmdx/?
Myod1tm1Jae/Myod1tm1Jae
involves: 129S4/SvJae * C57BL/10ScSn MGI:3784305
cx28
Dmdmdx/Dmd+
Foxk1tm1Djg/Foxk1+
involves: 129S4/SvJae * C57BL/10ScSn MGI:3655093
cx29
Dmdmdx/Y
Foxk1tm1Djg/Foxk1tm1Djg
involves: 129S4/SvJae * C57BL/10ScSn MGI:3655090
cx30
Dmdmdx/Dmdmdx
Foxk1tm1Djg/Foxk1tm1Djg
involves: 129S4/SvJae * C57BL/10ScSn MGI:3655088
cx31
Dag1tm1.1Swin/Dag1tm1.1Swin
Dmdmdx/Y
involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn MGI:5438998
cx32
Dag1tm1.1Swin/Dag1tm1.1Swin
Dmdmdx/Dmdmdx
involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn MGI:5438997
cx33
Dmdmdx/?
Fgf6tm1Thbr/Fgf6tm1Thbr
involves: 129S4/SvPas * C57BL/6 * C57BL/10ScSn MGI:3716195
cx34
Dmdmdx/Dmdmdx
Spp1tm1Blh/Spp1tm1Blh
involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn MGI:4361735
cx35
Dmdmdx/Y
Spp1tm1Blh/Spp1tm1Blh
involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn MGI:4361734
cx36
Dmdmdx/Y
Terctm1Rdp/Terctm1Rdp
involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL MGI:4936865
cx37
Dmdmdx/Y
Terctm1Rdp/Terc+
involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL MGI:4936867
cx38
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
involves: 129X1/SvJ * C57BL/10ScSn MGI:2176892
cx39
Cmahtm1Avrk/Cmahtm1Avrk
Dmdmdx/Dmdmdx
involves: 129X1/SvJ * C57BL/10ScSn MGI:4889211
cx40
Dmdmdx/Dmdmdx
Prkdcscid/Prkdcscid
involves: BALB/c * C57BL/10ScSn * C57BL/Ka MGI:5490611
cx41
Dmdmdx/Dmdmdx
Tg(ACTA1-SSPN)3.0Rcros/0
involves: C57BL/10ScSn MGI:5428739
cx42
Dmdmdx/Y
Foxn1nu/Foxn1nu
involves: C57BL/10ScSn MGI:5521335
cx43
Dmdmdx/Y
Mirc37tm1Boet/Mirc37tm1Boet
involves: C57BL/10ScSn MGI:5903046
cx44
Dmdmdx/Dmdmdx
Selenostm1.1Sfa/Selenos+
involves: C57BL/6 * C57BL/10ScSn MGI:6258417
cx45
Dmdmdx/Dmdmdx
Snhg15tm1Nju/Snhg15tm1Nju
involves: C57BL/6J * C57BL/10ScSn MGI:6478907
ot46
Dmdmdx/Y C57BL/10ScSn-Dmdmdx MGI:3798607
ot47
Dmdmdx/Y C57BL/10ScSn-Dmdmdx/J MGI:3789123
ot48
Dmdmdx/Y involves: 129S4/SvJae * C57BL/10ScSn MGI:4366784
ot49
Dmdmdx/Y involves: C57BL/10ScSn MGI:4359635
ot50
Dmdmdx/? B6.B10ScSn-Dmdmdx MGI:3716194


Genotype
MGI:4359195
hm1
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
C57BL/10ScSn-Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 13 of 65 homozygotes display one or two foci of myocardial necrosis between 26 and 303 days of age and the necrotic fibers have sarcoplasmic vacuolation and loss of nuclei
• progressive starting at 9 weeks of age

muscle
N
• Background Sensitivity: no muscle fibrosis is observed in contrast to the fibrosis observed Dmdmdx mice on the DBA/2 background
• Background Sensitivity: grip strength scores are similar to wild-type controls in contrast to Dmdmdx mice on the DBA/2 background
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped
• cardiac myocyte disorganization
• 13 of 65 homozygotes display one or two foci of myocardial necrosis between 26 and 303 days of age and the necrotic fibers have sarcoplasmic vacuolation and loss of nuclei
• progressive starting at 9 weeks of age
• cultured embryonic muscle stem cells from E11.5 to E17.5 exhibit hyperproliferation and apoptosis
• Pax7+ skeletal muscle stem cell population is reduced and disorganized at E17.5
• myotube alignment is disrupted early in myogenesis
• muscles exhibit a small reduction in myotube number at E13.5-E17.5
• myotubes are hypotrophic in E13.5-E17.5 muscles
• myotube width varies more in E13.5-E17.5 muscles than in wild-type muscle
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• myonuclei are more frequently located centrally and slightly further apart in the myotube at E15.5
• only central nuclei (not peripheral) are present in E15.5 muscles
• myotube defects occur earlier in intercostals at E13.5 than proximal limb muscles at E15.5
• development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina (J:7361)
• the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned (J:7361)
• myopathic lesions in skeletal muscle are found by 22 days of age and are characterized by widespread loss of sarcoplasmic structure, vacuolation, and eosinophilia (J:152524)
• myotubes indicative of muscle regeneration are found by 22 days of age and by 31 days of age almost all muscles have numerous myotubes (J:152524)
• variable muscle fiber size; progressive starting at 3 weeks of age
• only central nuclei (not peripheral) are present in E15.5 muscles (J:150127)
• 25% of fibers have non-peripheral nuclei at 26 days of age and 53% at 100 to 303 days of age (J:152524)
• Background Sensitivity: total number of myofibers is greater than total number of myofibers found in Dmdmdx mice on the DBA/2 background
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• intercostal muscle fibers are distributed more sparsely at E17.5 and fetuses have reduced intercostal muscle fiber densities
• 37.5% depletion of intercostal myotubes by E17.5
• Background Sensitivity: weight of quadriceps femoris is greater than both wild-type and Dmdmdx mice on the DBA/2 background
• Background Sensitivity: in comparison to Dmdmdx mice on the DBA/2 background
• Background Sensitivity: weights of tibialis anterior and gastrocnemius muscles are greater than both wild-type and Dmdmdx mice on the DBA/2 background
• exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells
• progressive starting at 3 weeks of age
• progressive starting at 3 weeks of age
• progressive degenerative myopathy; increased severity with age

reproductive system
• slight reduction in fertility

adipose tissue
N
• Background Sensitivity: no fat accumulation is observed in contrast to Dmdmdx mice on the DBA/2 background

behavior/neurological
• Background Sensitivity: mice run shorter distances than wild-type mice, but run farther than Dmdmdx mice on the DBA/2 backgroun

cardiovascular system
• cardiac myocyte disorganization
• 13 of 65 homozygotes display one or two foci of myocardial necrosis between 26 and 303 days of age and the necrotic fibers have sarcoplasmic vacuolation and loss of nuclei
• distention or separation of the myocardial and endocardial cell layers of the atria occurs at E17.5
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped

homeostasis/metabolism
N
• serum T4 and thyroid stimulating hormone are normal (J:18080)
• serum pyruvate kinase activity is normal (J:152524)
• Background Sensitivity: mice run shorter distances than wild-type mice, but run farther than Dmdmdx mice on the DBA/2 backgroun
• exhibit elevated blood levels of creatine kinase (J:7361)
• serum creatine kinase is elevated at 2 months of age (J:18080)
• serum creatine kinase activity is elevated between 12 and 200 days of age (J:152524)
• exhibit elevated blood levels of pyruvate kinase
• pituitary growth hormone levels is slightly higher than normal in 8 to 10 month old females

endocrine/exocrine glands
• some corticotrophs have enlarged golgi stacks
• dilation of the rough endoplasmic reticulum, enlarged golgi apparatus, and the presence of many dense secretory granules of homogeneous size are characteristics of the hypertrophic somatotrophs of homozygotes

nervous system
• some corticotrophs have enlarged golgi stacks
• dilation of the rough endoplasmic reticulum, enlarged golgi apparatus, and the presence of many dense secretory granules of homogeneous size are characteristics of the hypertrophic somatotrophs of homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:150127




Genotype
MGI:3621491
hm2
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
C57BL/10ScSn-Dmdmdx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• progressive starting at 9 weeks of age

muscle
• progressive starting at 9 weeks of age
• development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina
• the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned
• tibialis anterior muscle fibers are increased in diameter (1500 m2) as compared to C57BL/10ScSn mice (375-750 m2)
• variable muscle fiber size; progressive starting at 3 weeks of age
• mice exhibit an increased number of centrally nucleated fibers
• Background Sensitivity: increase is less than in Dmdmdx mice on the DBA/2J background than in mice on the C57BL/10ScSn background
• Background Sensitivity: myonuclei are predominantly centrally located in contrast to juxtasarcolemmal position in mice on the DBA/2J background
• increase in muscle mass in gastrocnemius, tibialis anterior and quadriceps as compared to controls
• increased muscle mass in EDL as compared to C57BL/10ScSn control at 28 and 52 weeks of age
• Background Sensitivity: increased muscle mass in EDL as compared to Dmdmdx mice on the DBA/2J background at 7, 28 and 52 weeks of age
• muscle hypertrophy observed in gastrocnemius, tibialis anterior and quadriceps
• Background Sensitivity: hypertrophy is not observed in Dmdmdx mice on the DBA/2J background
• exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells
• calcium deposits are observed in quadriceps at 52 weeks of age
• Background Sensitivity: however, Dmdmdx mice on the DBA/2J background develop calcium deposits by 7 weeks of age
(J:7361)
• onset of muscular dystrophy is earlier and more severe in Dmdmdx mice on the DBA/2J background (J:226314)
• progressive starting at 3 weeks of age
• lesions that are observed in quadriceps and diaphragm exhibit muscle degeneration, regeneration and mononuclear infiltrating cells at 7 weeks of age
• increased uptake of Evans blue dye, a measure of muscle damage, as compared to C57BL/10ScSn controls at 8 weeks of age
• Background Sensitivity: however, uptake is lower than in Dmdmdx mice on the DBA/2J background
• progressive starting at 3 weeks of age
• increased intracellular sodium concentration in muscle; increased severity with age
• lower ejection fraction and shortening fraction than C57BL/10ScSn controls at 52 weeks of age
• Background Sensitivity: ejection fraction and shortening fraction are higher than in Dmdmdx mice on the DBA/2J background at 28 weeks of age
• cardiomyopathy is observed at 28 weeks of age
• Background Sensitivity: cardiomyopathy is observed at 7 weeks of age in Dmdmdx mice on the DBA/2J background
• hindlimb and forelimb inflammation (as measured by cathepsin activity) is observed at 7 weeks of age
• inflammation and mononuclear cell infiltration is observed in the quadriceps beginning at 7 weeks of age
• Background Sensitivity: unlike Dmdmdx mice on the DBA/2J background inflammation is not observed in the forelimbs at 52 weeks of age
• decrease in specific force generation in extensor digitorum longus (EDL) as compared to C57BL/10ScSn controls at 28 and 52 weeks of age
• Background Sensitivity: increase in specific and maximum force generation in EDL as compared to Dmdmdx mice on the DBA/2J background
• lesions that are observed in quadriceps and diaphragm exhibit muscle degeneration, regeneration and mononuclear infiltrating cells at 7 weeks of age
• progressive degenerative myopathy; increased severity with age

reproductive system
• slight reduction in fertility

cardiovascular system
N
• Background Sensitivity: mice do not exhibit inflammation in cardiac tissue in contrast to Dmdmdx mice on the DBA/2J background
• enlarged heart as compared to C57BL/10ScSn controls
• enlargement is significant at 52 weeks of age
• lower ejection fraction and shortening fraction than C57BL/10ScSn controls at 52 weeks of age
• Background Sensitivity: ejection fraction and shortening fraction are higher than in Dmdmdx mice on the DBA/2J background at 28 weeks of age
• cardiomyopathy is observed at 28 weeks of age
• Background Sensitivity: cardiomyopathy is observed at 7 weeks of age in Dmdmdx mice on the DBA/2J background

growth/size/body
• enlarged heart as compared to C57BL/10ScSn controls
• enlargement is significant at 52 weeks of age
• mice have increased body mass as compared to C57BL/10ScSn controls
• Background Sensitivity: mice have increased body mass as compared to Dmdmdx mice on the DBA/2J background at 28 weeks

hearing/vestibular/ear
• prolonged brainstem auditory evoked potential peak and interpeak latencies after noise exposure
• significantly increased hearing threshold after noise exposure
• daily exposure to noise for 1 month increased hearing threshold and prolonged brainstem auditory evoked potential peak and interpeak latencies

homeostasis/metabolism
• exhibit elevated blood levels of creatine kinase (J:7361)
• elevated levels of serum creatine kinase as compared to C57BL/10ScSn controls at 24 and 28 weeks (J:226314)
• Background Sensitivity: levels are higher than Dmdmdx mice on the DBA/2J background at 24 weeks (J:226314)
• exhibit elevated blood levels of pyruvate kinase
• increased creatine kinase activity as compared to C57BL/10ScSn controls at 24 and 28 weeks
• Background Sensitivity: activity is higher than Dmdmdx mice on the DBA/2J background at 24 weeks

immune system
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks and 2 years of age
• in splenocytes at 2 weeks, 4 weeks, and 2 years of age
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks of age
• hindlimb and forelimb inflammation (as measured by cathepsin activity) is observed at 7 weeks of age
• inflammation and mononuclear cell infiltration is observed in the quadriceps beginning at 7 weeks of age
• Background Sensitivity: unlike Dmdmdx mice on the DBA/2J background inflammation is not observed in the forelimbs at 52 weeks of age

behavior/neurological
• performance is similar to that observed in double knockouts
• performance is similar to that observed in double knockouts
• reduced forelimb and hindlimb grip strength beginning at 6 weeks as compared to controls
• Background Sensitivity: forelimb grip strength is less than Dmdmdx mice on the DBA/2J background at 28 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:7361




Genotype
MGI:5688354
hm3
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
D2.B10-Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• Background Sensitivity: increased fat accumulation in comparison to Dmdmdx mice on the C57BL/10 background

behavior/neurological
• maximum running speed in both males and females is less than in wild-type mice
• Background Sensitivity: mice run shorter distances than wild-type and Dmdmdx mice on the C57BL/10 background
• mice run 45% (male) and 56% (female) shorter distances than wild-type

growth/size/body
• decreased body weight as compared to wild-type

homeostasis/metabolism
• Background Sensitivity: mice run shorter distances than wild-type and Dmdmdx mice on the C57BL/10 background
• mice run 45% (male) and 56% (female) shorter distances than wild-type
• maximum running speed in both males and females is less than in wild-type mice

muscle
• Background Sensitivity: decreased number of total myofibers in comparison to Dmdmdx mice on the C57BL/10 background
• Background Sensitivity: weight of quadriceps femoris is less than both wild-type and Dmdmdx mice on the C57BL/10 background
• Background Sensitivity: in comparison to Dmdmdx mice on the C57BL/10 background
• Background Sensitivity: weights of tibialis anterior and gastrocnemius muscles are less than both wild-type and Dmdmdx mice on the C57BL/10 background
• Background Sensitivity: increased fibrosis volume in quadriceps femoris as compared to Dmdmdx mice on the C57BL/10 background
• Background Sensitivity: mice exhibit lower grip strength test scores than wild-type mice and Dmdmdx mice on the C57BL/10 background

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:160773




Genotype
MGI:5697652
hm4
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
D2.B10-Dmdmdx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• lower ejection fraction and shortening fraction than DBA/2J controls at 28 and 52 weeks of age
• Background Sensitivity: ejection fraction and shortening fraction is lower than in Dmdmdx mice on C57BL/10ScSn background at 28 weeks of age
• cardiomyopathy is observed at 7 weeks of age in mice on the DBA/2J background
• Background Sensitivity: cardiomyopathy is observed at 28 weeks of age in Dmdmdx mice on the C57BL/10ScSn background
• forelimb and hindlimb inflammation (as measured by cathepsin activity) is observed at 7 weeks of age
• inflammation in the forelimb is still observed at 52 weeks of age
• inflammation and mononuclear cell infiltration is observed in the quadriceps beginning at 7 weeks of age
• Background Sensitivity: forelimb inflammation at 52 weeks is not observed in mice on on the C57BL/10ScSn background
• high incidence of primary and complex branching in myofibers from extensor digitorum longus (EDL) in 12 week old male mice
• increase in average number of nuclei per myofiber and decreased F-actin content from EDL at 12 weeks of age
• decrease in myonuclear domain from EDL at 12 weeks of age
• increased number of small fibers and smaller number of normal sized fibers
• tibialis anterior muscle fibers are reduced in diameter (375 m2) as compared to DBA/2J mice (375-750 m2)
• mice exhibit an increased number of centrally nucleated fibers
• myonuclei are predominantly located in juxtasarcolemmal position on the DBA/2J background
• Background Sensitivity: increase is less on the DBA/2J background than on the C57BL/10ScSn background
• Background Sensitivity: myonuclei are predominantly centrally located on the C57BL/10ScSn background
• loss of muscle mass in gastrocnemius, tibialis anterior and quadriceps as compared to controls
• reduced muscle mass in extensor digitorum longus (EDL) as compared to DBA/2J at 28 and 52 weeks of age
• Background Sensitivity: reduced muscle mass in EDL as compared to Dmdmdx mice on C57BL/10ScSn background at 7, 28 and 52 weeks of age
• muscle atrophy is observed in mice on the DBA/2J background
• Background Sensitivity: however, muscle hypertrophy is observed in Dmdmdx mice on the C57BL/10ScSn background
• lesions that are observed in quadriceps and diaphragm exhibit muscle degeneration, regeneration and mononuclear infiltrating cells at 7 weeks of age
• increased uptake of Evans blue dye, a measure of muscle damage, as compared to DBA/2J controls at 8 weeks of age
• Background Sensitivity: uptake is higher than in Dmdmdx mice on the C57BL/10ScSn background
• calcifications in quadriceps, heart, diaphragm and epicardium of heart at 7 weeks of age
• Background Sensitivity: Dmdmdx mice on the C57BL/10ScSn background did not exhibit calcifications until 52 weeks of age
• Background Sensitivity: onset of muscular dystrophy is later and less severe in Dmdmdx mice on on the C57BL/10ScSn background
• decrease in specific and maximal force generation in EDL at 7, 28 and 52 weeks as compared to DBA/2J controls
• Background Sensitivity: decrease in specific and maximal force generation in EDL at 7 and 28 weeks as compared to Dmdmdx mice on C57BL/10ScSn background
• lesions that are observed in quadriceps and diaphragm exhibit muscle degeneration, regeneration and mononuclear infiltrating cells at 7 weeks of age

cardiovascular system
• calcifications in quadriceps, heart, diaphragm and epicardium of heart at 7 weeks of age
• Background Sensitivity: Dmdmdx mice on the C57BL/10ScSn background did not exhibit calcifications until 52 weeks of age
• decreased left ventricular (stroke) volume
• lower ejection fraction and shortening fraction than DBA/2J controls at 28 and 52 weeks of age
• Background Sensitivity: ejection fraction and shortening fraction is lower than in Dmdmdx mice on C57BL/10ScSn background at 28 weeks of age
• cardiomyopathy is observed at 7 weeks of age in mice on the DBA/2J background
• Background Sensitivity: cardiomyopathy is observed at 28 weeks of age in Dmdmdx mice on the C57BL/10ScSn background
• inflammation within cardiac tissue is observed by 7 weeks of age
• Background Sensitivity: inflammation is not observed in in Dmdmdx mice on the C57BL/10ScSn background

growth/size/body
• mice have reduced body mass as compared to DBA/2J controls
• Background Sensitivity: Dmdmdx mice on the DBA/2J background have reduced body mass as compared to mice on the C57BL/10ScSn background at 28 weeks

homeostasis/metabolism
• elevated levels of serum creatine kinase as compared to DBA/2J controls at 24 and 28 weeks
• Background Sensitivity: levels are lower at 24 weeks as compared to Dmdmdx mice on the C57BL/10ScSn background
• increased creatine kinase activity as compared to DBA/2J controls at 24 and 28 weeks
• Background Sensitivity: activity is lower at 24 weeks as compared to Dmdmdx mice on the C57BL/10ScSn background

immune system
• inflammation within cardiac tissue is observed by 7 weeks of age
• Background Sensitivity: inflammation is not observed in in Dmdmdx mice on the C57BL/10ScSn background
• forelimb and hindlimb inflammation (as measured by cathepsin activity) is observed at 7 weeks of age
• inflammation in the forelimb is still observed at 52 weeks of age
• inflammation and mononuclear cell infiltration is observed in the quadriceps beginning at 7 weeks of age
• Background Sensitivity: forelimb inflammation at 52 weeks is not observed in mice on on the C57BL/10ScSn background

behavior/neurological
• reduced forelimb grip strength at 12 weeks and 24 weeks as compared to controls
• reduced hindlimb grip strength at 24 weeks, as compared to controls, however, gap closes by 52 weeks
• Background Sensitivity: forelimb grip strength at 28 weeks is higher than grip strength in Dmdmdx mice on C57BL/10ScSn background, but still less than controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:226314




Genotype
MGI:5490615
hm5
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
involves: BALB/c * C57BL/10ScSn * C57BL/Ka
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice exhibit a shorter time to exhaustion than wild type controls
• lower endurance on treadmill than Prkdcscid Dmdmdx double mutants
• costal diaphragm (DIA) has higher quantity of active TGFB1 in comparison to Prkdcscid Dmdmdx double mutants although total quantity is similar
• tibialis anterior (TA) and quadricepts (QA) muscles have a higher content of total TGB1 in comparison to Prkdcscid Dmdmdx double mutants

muscle
• area of muscle fibers is 1500-1700 um2 and coefficient of variance is 55-65
• small, centrally nucleated, regenerating muscle fibers are found in 2 and 12 month old mice
• 40-45% of muscle fibers exhibit centrally located nuclei
• degenerating muscle fibers are found in 2 and 12 month old mice
• high rate of fibrosis is observed in aged 12 month old mice
• loss of normalized tetanic force is observed in 2 and 12 month old mice

skeleton
• progressive spinal deformity

behavior/neurological
• mice exhibit a shorter time to exhaustion than wild type controls
• lower endurance on treadmill than Prkdcscid Dmdmdx double mutants




Genotype
MGI:2654139
hm6
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• the anterior scalene muscle at 1 to 1.5 years of age show dystrophic changes similar to those of the diaphragm at 6 months of age

muscle
• from 2 weeks of age in both type 1 and 2 fibers of the extensor digitorum longus and soleus
• regenerating fibers, with central nuclei, are most abundant around 35 to 39 days of age when they are approximately 30% of the extensor digitorum longus and 50% of the soleus
• by 28 days of age necrosis and phagocytosis, with rounded off and swollen mitochondria in the necrotic fibers, is widespread, but is rare at 21 days of age
• scattered foci of necrotizing fibers surrounded by cellular infiltration can be found in soleus and plantaris muscles as early as 14 days of age, and subsequently in the tibialis anterior, and lastly the extensor digitorum longus with foci of basophilic myotubes being found from 4 weeks of age on (J:19034)
(J:152525)
• although younger homozygotes do not have fat or fibrous connective tissue in the skeletal muscles, by 270 days of age some fibrous connective tissue is found (J:152892)
• the anterior scalene muscle at 1 to 1.5 years of age show dystrophic changes similar to those of the diaphragm at 6 months of age
• the extensor digitorum longus, but not the soleus, at 32 weeks of age has a greater proportion of fast-twitch-oxidative-glycolytic fibers and a smaller proportion of fast-twitch-glycolytic fibers than controls (J:152749)
• at 15 days of age necrotic fibers are found, occassionally in clusters, at 20 days of age necrotic fibers are numerous as are groups of regenerating fibers with internally placed nuclei, necrotic fibers are most numerous between 30 and 60 days of age and gradually dissapear although a few scattered necrotic fibers are present at 120 and 180 days of age, and the regenerating fibers increase in size after 30 days of age and almost all of the fibers have internally placed nuclei by 60 to 120 days of age, but there is almost no fibrous tissue proliferation or adipose tissue replacement (J:152525)
• electron microscopy shows an accumulation of small pools of non-membrane-bound glycogen from 14 days of age on in both type 1 and type 2 fibers, and membrane-bound vacuoles of variable size and form with finely granular contents are found beginning at 2 weeks of age in the type 1 fibers of the soleus but not extensor digitorum longus (J:152892)
• although the number of fibers is normal, the cross-sectional area of the fibers of the tibialis anterior is larger than normal at 3 and 6 months of age (J:19034)
• at 32 weeks of age in the soleus fast-twitch-oxidative-glycolytic fibers have a larger cross-sectional area than those of controls (J:152749)
• at 32 weeks of age in the extensor digitorum longus muscle both the slow-twitch-oxidative and fast-twitch-glycolytic fibers have a larger cross-sectional area than those of controls (J:152749)
• peripherally nucleated fibers replace the normal fibers in the tibialis anterior, extensor digitorum longus, plantaris, and soleus in a progressive manner, reaching a plateau of 80-90% of fibers at 26 weeks of age (J:19034)
(J:152525)
• unlike skeletal muscle, the diaphragm undergoes progressive degeneration without regeneration such that, although at 30 days of age foci of myofiber degeneration, necrosis, mineralization, and regeneration are present but not extensive, at 6 months of age the diaphragm has a wide variation in myofiber size and architecture, continued necrosis and connective tissue proliferation, and at 16 months of age the diaphragm is pale due to the extensive myofiber loss and replacement fibrosis and the remaining fibers are ensheathed in dense collagenous tissue with most having architectural aberrations
• at 16 months of age there are twice normal levels of slow myosin in the diaphragm, a decrease in isometric force generation, and a shortened fiber length
• at 1.5 years of age the diaphragm is found to have significantly reduced passive stretch capacity although overt respiratory compromise is not found in aging mutants
• the intercostal muscles at 1 to 1.5 years of age have dystrophic changes similar to those of the diaphragm at 6 months of age
• the cross-sectional area and wet weight of the tibialis anterior is greater than normal by 10 weeks of age
• detectable up to 12 months of age but not at 15 months of age, at which point muscle fibers appear atrophied and extensively split
• found with age in the soleus and plantaris
• in skeletal muscle fibers myosin magnesium-ATPase activity is higher than normal, myosin B ATPase activity is higher than normal in low free calcium concentrations, and rapid phosphate liberation by magnesium-ATPase is lower than normal
• satellite cell mitosis is found at 14 days of age and by 28 days increased satellite cells are found in healthy appearing fibers but frequently adjacent to necrotic fibers
• scattered hypercontracted fibers are found by electron microscopy at 10 days of age
• at 23 degrees hemidiaphragm preparations show lower than normal resting membrane potentials and insertion of a glass microelectrode into a single muscle fiber results in repetitive bursts of muscle action potentials in 30 to 50% of fibers, while at 37 degrees only 7.8% of muscle fibers display this electrical myotonia and the resting membrane potentials are normal
• at 4 weeks of age the soleus muscle has decreased twitch and tetanus tension compared with controls, but this is normal by 32 weeks of age
• at 3 and 32 weeks of age the extensor digitorum longus muscle has decreased twitch and tetanus tension and faster time-to-peak twitch tension compared with controls and the maximum velocity of unloaded shortening is also decreased at 32 weeks of age

homeostasis/metabolism
• injection of the gastrocnemius muscle with chlorpromazine results in a less destruction of calmitine than in controls (20% versus 40%) and has less of an impact on calcium binding to calmitine

vision/eye
• nuclear opacity of the lens is found at 1 day of age
• a slight anterior subcapsular opacity is seen at 4 days of age, which spreads anteriorly such that at 150 days of age there is complete anterior subcapsular opacity in addition to the nuclear opacity

nervous system
N
• at 8 weeks of age miniature endplate potential frequency, the quantal content of endplate potentials, the amplitude and time course of miniature endplate currents, and the number of acetylcholine receptors at the postsynaptic membrane are all normal
• although the nerve terminal innervation of epitronchleoanconeus muscle is normal, the terminal architecture of regenerated muscle fibers, those with central nuclei, are more complex than normal with an increase in the number of fine terminal aborizations, many of which have bouton-like swellings and, rather than the normal confluent pattern at postsynaptic regions, staining of acetylcholine receptors is found in numerous small spots corresponding to the boutons on the motor axon terminals with acetylcholinesterase staining in close association
• electron microscopy shows that neuromuscular junction postsynaptic membranes are variably simplified with a reduction in the number of secondary synaptic folds

cellular
• by 28 days of age necrosis and phagocytosis, with rounded off and swollen mitochondria in the necrotic fibers, is widespread, but is rare at 21 days of age
• scattered foci of necrotizing fibers surrounded by cellular infiltration can be found in soleus and plantaris muscles as early as 14 days of age, and subsequently in the tibialis anterior, and lastly the extensor digitorum longus with foci of basophilic myotubes being found from 4 weeks of age on (J:19034)
(J:152525)
• although younger homozygotes do not have fat or fibrous connective tissue in the skeletal muscles, by 270 days of age some fibrous connective tissue is found (J:152892)
• satellite cell mitosis is found at 14 days of age and by 28 days increased satellite cells are found in healthy appearing fibers but frequently adjacent to necrotic fibers




Genotype
MGI:4366785
ht7
Allelic
Composition
Dmdmdx/Dmd+
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice show isolated dystrophic changes in the muscle

homeostasis/metabolism
• moderate elevation of pyruvate kinase levels is detectable by P21




Genotype
MGI:4360111
ht8
Allelic
Composition
Dmdmdx/Dmd+
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• consistent with X-inactivation, heterozygous females have a mosaic absence of dystrophin, but this diminishes with age such that at 10 days of age 37% of the fibers in a cross section of the quadriceps lack dystrophin staining, at 35 days of age only 18% of fibers lack dystrophin, and by 60 days of age only 4% lack dystrophin, in extraocular muscles the proportions of dystrophin expressing and non-expressing fibers is similar and in cardiac ventricular muscle approximately 30% of fibers lack dystrophin at 10 days of age, and 28% lack dystrophin at 60 days of age
• unlike hemizygotes or homozygotes, necrosis of muscle fibers is very rare




Genotype
MGI:4367735
cx9
Allelic
Composition
Dmdmdx/Dmdmdx
Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic
Background
B10.Cg-Mmp9tm1Tvu Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Mmp9tm1Tvu mutation (2 available); any Mmp9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice exhibit improved muscle and sarcolemmal structure, more uniform fiber diameter, reduced inflammatory cell between adjacent fibers, and decreased necrosis and fibrosis compared with Dmdmdx homozygotes
• myofiber regeneration is increased compared to in Dmdmdx homozygotes

immune system
• fewer macrophages accumulate in the muscles compared to in Dmdmdx homozygotes

hematopoietic system
• fewer macrophages accumulate in the muscles compared to in Dmdmdx homozygotes




Genotype
MGI:4367736
cx10
Allelic
Composition
Dmdmdx/Dmdmdx
Mmp9tm1Tvu/Mmp9+
Genetic
Background
B10.Cg-Mmp9tm1Tvu Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Mmp9tm1Tvu mutation (2 available); any Mmp9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice exhibit improved muscle and sarcolemmal structure, more uniform fiber diameter, reduced inflammatory cell between adjacent fibers, and decreased necrosis and fibrosis compared with Dmdmdx homozygotes
• mice exhibit higher muscle force production compared with Dmdmdx homozygotes
• myofiber regeneration is increased compared to in Dmdmdx homozygotes

immune system
• fewer macrophages accumulate in the muscles compared to in Dmdmdx homozygotes

hematopoietic system
• fewer macrophages accumulate in the muscles compared to in Dmdmdx homozygotes




Genotype
MGI:5299346
cx11
Allelic
Composition
Creb1tm1.1Berd/Creb1tm1.1Berd
Dmdmdx/Y
Genetic
Background
B.Cg-Creb1tm1.1Berd Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Creb1tm1.1Berd mutation (0 available); any Creb1 mutation (52 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscle degeneration proceeds as in Dmdmdx mice
• muscle regeneration is increased compared to in Dmdmdx mice




Genotype
MGI:5439173
cx12
Allelic
Composition
Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Y
Genetic
Background
involves: 129 * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Barx2tm1Rsd mutation (0 available); any Barx2 mutation (17 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• mutants are under-represented at weaning age

growth/size/body
• mutants are about 30% smaller than single Dmd mutants at 4 weeks of age; organs are reduced proportionately

behavior/neurological
• mutants become progressively less ambulatory with a waddling gait
• gait abnormalities appear earlier and are more severe than in single Barx2 mutants
• mutants become progressively less ambulatory

muscle
• organization of tibialis anterior muscle is extremely aberrant with greater variability in myofiber size and fewer central nuclei releative to muscle from single Dmd mutants
• soleus muscles show greater variability in myofiber size and shape compared to muscle from single Dmd mutants
• tibialis anterior muscle weighs on average 50% less than in single Dmd mutants, indicating muscle wasting
• at 12 months of age, diaphragms show a greater instance of focal myofiber necrosis and necrotic myofibers undergoing myophagocytosis and more fibrosis compared to single Dmd mutants
• diaphragm muscles at 6 months of age are much thinner than in single Dmd mutants and show more frequent rounded opaque fibers often with clear vacuoles, indicating hypercontracted atrophic fibers
• soleus muscles show more endomysial and perimysial fibrosis compared to muscle from single Dmd mutants
• diaphragms show more fibrosis than single Dmd mutants
• tibialis anterior muscle shows fewer central nuclei relative to muscle from single Dmd mutants, indicating reduction in repair of muscle damage
• mutants become progressively weak

skeleton
• mutants develop spine deformation resembling kyphosis by 6 months of age
• spine deformation appears earlier and is more severe than in single Barx2 mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:187799




Genotype
MGI:5313412
cx13
Allelic
Composition
Dmdmdx/Dmdmdx
Mamstrtm1.2Eno/Mamstrtm1.2Eno
Genetic
Background
involves: 129 * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Mamstrtm1.2Eno mutation (0 available); any Mamstr mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• at 4 and 6 weeks of age compared to mice homozygous for Dmdmdx alone
• severe muscle damage and increased fibrosis
• severe muscle damage and increased fibrosis

growth/size/body
• at 4 and 6 weeks of age compared to mice homozygous for Dmdmdx alone

cellular




Genotype
MGI:5439179
cx14
Allelic
Composition
Barx2tm1Rsd/Barx2tm1Rsd
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129 * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Barx2tm1Rsd mutation (0 available); any Barx2 mutation (17 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• mutants are under-represented at weaning age

growth/size/body
• mutants are about 30% smaller than single Dmd mutants at 4 weeks of age; organs are reduced proportionately

behavior/neurological
• mutants become progressively less ambulatory with a waddling gait
• gait abnormalities appear earlier and are more severe than in single Barx2 mutants
• mutants become progressively less ambulatory

muscle
• organization of tibialis anterior muscle is extremely aberrant with greater variability in myofiber size and fewer central nuclei releative to muscle from single Dmd mutants
• soleus muscles show greater variability in myofiber size and shape compared to muscle from single Dmd mutants
• tibialis anterior muscle weighs on average 50% less than in single Dmd mutants, indicating muscle wasting
• at 12 months of age, diaphragms show a greater instance of focal myofiber necrosis and necrotic myofibers undergoing myophagocytosis and more fibrosis compared to single Dmd mutants
• diaphragm muscles at 6 months of age are much thinner than in single Dmd mutants and show more frequent rounded opaque fibers often with clear vacuoles, indicating hypercontracted atrophic fibers
• soleus muscles show more endomysial and perimysial fibrosis compared to muscle from single Dmd mutants
• diaphragms show more fibrosis than single Dmd mutants
• tibialis anterior muscle shows fewer central nuclei relative to muscle from single Dmd mutants, indicating reduction in repair of muscle damage
• mutants become progressively weak

skeleton
• mutants develop spine deformation resembling kyphosis by 6 months of age
• spine deformation appears earlier and is more severe than in single Barx2 mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:187799




Genotype
MGI:6507848
cx15
Allelic
Composition
Dmdmdx/Y
Tg(DMD*)#Spc/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/10ScSn * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Tg(DMD*)#Spc mutation (0 available); any Tg(DMD*)#Spc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscle inflammation
• muscle shows features of fibrosis

immune system
• muscle inflammation

homeostasis/metabolism
• muscle shows calcium deposits

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:280218




Genotype
MGI:3716189
cx16
Allelic
Composition
Dmdmdx/?
Fgf2tm1Zllr/Fgf2tm1Zllr
Fgf6tm1Thbr/Fgf6tm1Thbr
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Fgf2tm1Zllr mutation (0 available); any Fgf2 mutation (14 available)
Fgf6tm1Thbr mutation (0 available); any Fgf6 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• numerous necrotic fibers are present

muscle
N
• growth and differentiation kinetics of myogenic cells are comparable to wild-type
• pale areas in muscle contain extensive connective tissue
• when mice are injected with the diazo dye EBD, dye is taken up by damaged muscle fibers to varying degrees, but preferentially into the hindlimb; uptake occurs because of focal breakdown of plasmalemma which is an early event in necrosis
• some muscles are stained entirely indicating massive damage to the muscle fibers of the diaphragm and gluteus maximus whereas muscles in wild-type mice do not take up dye
• numerous necrotic fibers are present
• in pale areas of muscles, remaining myotubes show large variation in caliber size
• myotubes have slightly reduced percentage of satellite cells with respect to myotube nuclei in wild-type (3.05% vs 3.56%)
• severe abnormalities are observed
• mutants display palpable stiffness of the musculature, most evident in pelvic and shoulder girdle, at up to 6 months of age

skeleton
• up to 6 months of age, mice do not show clinical signs of severe dystrophy except for dorsal-ventral curvature of the spine




Genotype
MGI:2176876
cx17
Allelic
Composition
Dmdmdx/Dmdmdx
Utrntm1Jrs/Utrntm1Jrs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Utrntm1Jrs mutation (2 available); any Utrn mutation (253 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
• necrosis begins earlier and persists longer than in single Dmd mutants and leads to fibrosis

mortality/aging
• die between 4 and 14 weeks of age, with only half surviving beyond 8 weeks (J:42389)
• lifespan is 4-20 weeks (J:59675)

growth/size/body
• significantly smaller by 4 weeks of age
• grow more slowly after 3 weeks of age (J:42389)
(J:59675)

muscle
• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
• necrosis begins earlier and persists longer than in single Dmd mutants and leads to fibrosis
• seen by 10 weeks of age
• begin to exhibit symptoms of skeletal muscle disease at 4 weeks of age and severity progresses with age (J:42389)
• develop severe skeletal muscle dystrophy (J:59675)
• muscle degeneration begins earlier than in single Dmd mutants
(J:42389)
• develop moderate to severe cardiomyopathy (J:59675)
• relaxation time of muscle (time from peak force to baseline) is greatly prolonged
• sternomastoid muscle generates only 40-60% as much tension as controls in response to stimulation of its nerve, indicating weakness

cardiovascular system
• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
(J:42389)
• develop moderate to severe cardiomyopathy (J:59675)

nervous system
• exhibit fewer junctional folds in the neuromuscular junction (J:42389)
• distribution of acetylcholine receptors within the synapse branches is abnormal, with a patchy distribution (J:60776)

limbs/digits/tail
• exhibit contracted and stiff limbs at 4 weeks of age (J:42389)
• severe limb contractures (J:59675)

skeleton
(J:42389)
(J:59675)

behavior/neurological
• abnormal waddling gait is seen at 4 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:42389 , J:59675




Genotype
MGI:2176891
cx18
Allelic
Composition
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Utrntm1Jrs/Utrntm1Jrs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Dtnatm1Jrs mutation (1 available); any Dtna mutation (31 available)
Utrntm1Jrs mutation (2 available); any Utrn mutation (253 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• lifespan is 3-11 weeks
• 3 of 11 die before weaning

growth/size/body
• exhibit poor growth

muscle
• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice
• develop severe skeletal dystrophy, however muscles are no more dystrophic than muscles of double Utrntm1Jrs and Dmdmdx mutant mice

cardiovascular system
• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice

skeleton

limbs/digits/tail
• severe limb contractures

nervous system
• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:59675




Genotype
MGI:5795669
cx19
Allelic
Composition
Dmdmdx/Y
Utrntm1Jrs/Utrn+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Utrntm1Jrs mutation (2 available); any Utrn mutation (253 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• endomysial inflammation in the diaphragm is more severe at 3 months of age than in single Dmdmdx hemizygous males
• endomysial inflammation in quadriceps is more severe at 3 months of age than in single Dmdmdx hemizygous males

muscle
• endomysial inflammation in the diaphragm is more severe at 3 months of age than in single Dmdmdx hemizygous males
• endomysial inflammation in quadriceps is more severe at 3 months of age than in single Dmdmdx hemizygous males
• mice develop mild endomysial fibrosis in quadriceps at 6 months
• endomysial fibrosis in the diaphragm is more severe than in single Dmdmdx hemizygous males

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:140282




Genotype
MGI:3716196
cx20
Allelic
Composition
Dmdmdx/?
Fgf2tm1Zllr/Fgf2tm1Zllr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Fgf2tm1Zllr mutation (0 available); any Fgf2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mutants show dystrophic changes to the muscle fibers, although less severely than Fgf2/Fgf6/Dmd triple mutants
• changes are not enhanced compared to Dmd mutants




Genotype
MGI:2176879
cx21
Allelic
Composition
Dmdmdx/Dmdmdx
Utrntm1Ked/Utrntm1Ked
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Utrntm1Ked mutation (9 available); any Utrn mutation (253 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• all succumb to premature death by 20 weeks of age

behavior/neurological
• slack posture by 4 to 6 weeks of age
• waddling gait
• decrease in mobility and abnormal field behavior by 4 to 6 weeks of age

growth/size/body

muscle
• muscle fibers are irregularly shaped and sized, many with centralized nuclei and some lymphocyte infiltration
• some fibers contain fat or appear to be replaced by adipose cells
• muscular dystrophy begins at 6 days of age and becomes severe by 10 weeks of age, earlier than in single Dmd mutants

respiratory system
• exhibit abnormal breathing by 4 to 6 weeks of age

skeleton

nervous system
• postsynaptic endplate regions exhibit a virtual absence of junctional folding at the postsynaptic membrane
• about 40% decrease in acetylcholine receptors at the synapse

limbs/digits/tail
• abnormally postured hindlimbs with joint contractures

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:42388




Genotype
MGI:5779560
cx22
Allelic
Composition
Ctsstm1Hap/Ctsstm1Hap
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129S2/SvPas * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsstm1Hap mutation (2 available); any Ctss mutation (23 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• myofiber necrosis is increased as compared to wild-type, but decreased as compared to homozygous Dmdmdx mic

behavior/neurological
• treadmill running time is decreased as compared to wild-type, but increased as compared to homozygous Dmdmdx mice

homeostasis/metabolism
• treadmill running time is decreased as compared to wild-type, but increased as compared to homozygous Dmdmdx mice
• increase in serum creatine kinase levels as compared to wild-type, but decreased as compared to homozygous Dmdmdx mic

muscle
• decreased membrane stability as compared to wild-type, but increased as compared to homozygous Dmdmdx mice
• myofiber necrosis is increased as compared to wild-type, but decreased as compared to homozygous Dmdmdx mic
• increase in central nucleation at 2 and 10 months of age as compared to wild-type, but decreased as compared to homozygous Dmdmdx mice
• fibrosis at 2 months and 10 months is increased as compared to wild-type, but decreased as compared to homozygous Dmdmdx mice
• increased as compared to wild-type, but decreased as compared to homozygous Dmdmdx mice




Genotype
MGI:4940318
cx23
Allelic
Composition
Dmdmdx/Dmdmdx
Dusp1tm1Brv/Dusp1tm1Brv
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Dusp1tm1Brv mutation (1 available); any Dusp1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice exhibit enhanced inflammatory response in skeletal muscles compared with Dmdmdx homozygotes
• compared with Dmdmdx homozygotes
• compared with Dmdmdx homozygotes
• increased compared to in Dmdmdx homozygotes
• in the tibialis anterior and gastrocnemius compared with Dmdmdx homozygotes
• mice exhibit an exacerbated dystrophic phenotype compared with Dmdmdx homozygotes

immune system
• mice exhibit enhanced inflammatory response in skeletal muscles compared with Dmdmdx homozygotes

behavior/neurological
• compared with Dmdmdx homozygotes

growth/size/body
• at 8 weeks compared with Dmdmdx homozygotes
• at 8 weeks compared with Dmdmdx homozygotes




Genotype
MGI:6114163
cx24
Allelic
Composition
Cav3tm1Ncnp/Cav3+
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cav3tm1Ncnp mutation (4 available); any Cav3 mutation (18 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• loss of hind limb Pax7+ myoblasts at E17.5
• myotubes are hypotrophic in E13.5-E17.5 muscles
• total myotube number per muscle is reduced
• high number of centrally located myonuclei at E17.5
• misalignment of myotubules in muscle at E13.5-E17.5
• high number of centrally located myonuclei at E17.5
• extensive loss of intercostal muscle fibers at E17.5 with reduced intercostal muscle fiber density
• 71.2% depletion of intercostal myotubes by E17.5




Genotype
MGI:4366782
cx25
Allelic
Composition
Dmdmdx/Dmd+
Nos1tm1Plh/Nos1tm1Plh
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Nos1tm1Plh mutation (3 available); any Nos1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice show isolated dystrophic changes in the muscle

homeostasis/metabolism
• moderate elevation of pyruvate kinase levels is detectable by P21, absence of Nos1 expression does not significantly change pyruvate kinase levels compared to mice heterozygous for both Dmdmdx and Nos1tm1Plh




Genotype
MGI:4366781
cx26
Allelic
Composition
Dmdmdx/Y
Nos1tm1Plh/Nos1tm1Plh
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Nos1tm1Plh mutation (3 available); any Nos1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice show severe dystrophic changes in the muscle

homeostasis/metabolism
• marked elevation of pyruvate kinase levels is detectable by P21, absence of Nos1 expression does not significantly change pyruvate kinase levels compared to mice hemizygous for Dmdmdx and heterozygous for Nos1tm1Plh




Genotype
MGI:3784305
cx27
Allelic
Composition
Dmdmdx/?
Myod1tm1Jae/Myod1tm1Jae
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Myod1tm1Jae mutation (2 available); any Myod1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Dmdmdx/? Myod1tm1Jae/Myod1tm1Jae mice develop cardiomyopathy

cellular
• fibrotic areas are composed of necrotic myocytes

growth/size/body

mortality/aging
• premature death around 12 months of age

cardiovascular system
• ventricles contain regions in which individual cardiac myocytes are enlarged; these hypertrophic myocytes are more common in the left ventricle than the right ventricle
• cardiac myocyte hypertrophy precedes necrosis
• fibrotic areas are composed of necrotic myocytes
• hearts show an increase in ventricular diameter without a change in the thickness of the ventricular wall
• more than 50% of mutants show evidence of fibrosis at 10 months of age, while more than 80% display extensive fibrosis by 12 months of age
• fibrosis is seen in the left ventricle and only rarely in the right ventricle and are confined primarily to the epicardial region of the left ventricle
• fibrotic areas are composed of necrotic myocytes associated with interstitial fibrosis
• progressive development of dilated cardiomyopathy that is evident by 5 months of age

muscle
• ventricles contain regions in which individual cardiac myocytes are enlarged; these hypertrophic myocytes are more common in the left ventricle than the right ventricle
• cardiac myocyte hypertrophy precedes necrosis
• fibrotic areas are composed of necrotic myocytes
• progressive development of dilated cardiomyopathy that is evident by 5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:52248




Genotype
MGI:3655093
cx28
Allelic
Composition
Dmdmdx/Dmd+
Foxk1tm1Djg/Foxk1+
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Foxk1tm1Djg mutation (0 available); any Foxk1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• extensive muscle necrosis is observed up to 6 months of age

growth/size/body
• mice survive to adulthood but remain small in size

muscle
• extensive muscle necrosis is observed up to 6 months of age




Genotype
MGI:3655090
cx29
Allelic
Composition
Dmdmdx/Y
Foxk1tm1Djg/Foxk1tm1Djg
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Foxk1tm1Djg mutation (0 available); any Foxk1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• all are dead by 3 months of age
• die within a few weeks of birth
• few survive beyond weaning

behavior/neurological
• fragile and weak

muscle
• fibrosis in muscles of the chest wall, the diaphragm and the intercostals

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:62225




Genotype
MGI:3655088
cx30
Allelic
Composition
Dmdmdx/Dmdmdx
Foxk1tm1Djg/Foxk1tm1Djg
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Foxk1tm1Djg mutation (0 available); any Foxk1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

mortality/aging
• all are dead by 3 months of age
• die within a few weeks of birth
• few survive beyond weaning

behavior/neurological
• fragile and weak

muscle
• fibrosis in muscles of the chest wall, the diaphragm and the intercostals

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:62225




Genotype
MGI:5438998
cx31
Allelic
Composition
Dag1tm1.1Swin/Dag1tm1.1Swin
Dmdmdx/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1tm1.1Swin mutation (0 available); any Dag1 mutation (98 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• less so than in Dmdmdx homozygotes or hemizygotes
• muscles exhibit partial protection against contraction-induced injury compared with Dmdmdx homozygotes or hemizygotes

muscle
• less so than in Dmdmdx homozygotes or hemizygotes




Genotype
MGI:5438997
cx32
Allelic
Composition
Dag1tm1.1Swin/Dag1tm1.1Swin
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1tm1.1Swin mutation (0 available); any Dag1 mutation (98 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• less so than in Dmdmdx homozygotes or hemizygotes
• muscles exhibit partial protection against contraction-induced injury compared with Dmdmdx homozygotes or hemizygotes

muscle
• less so than in Dmdmdx homozygotes or hemizygotes




Genotype
MGI:3716195
cx33
Allelic
Composition
Dmdmdx/?
Fgf6tm1Thbr/Fgf6tm1Thbr
Genetic
Background
involves: 129S4/SvPas * C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Fgf6tm1Thbr mutation (0 available); any Fgf6 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• dorso-ventral curvature of the spine

muscle
N
• no clinical signs of severe dystrophy for up to 6 months
• back and body wall musculature show changes similar to diaphragm but less uniformly and more focally distributed
• muscle changes similar to diaphragm but less uniformly and more focally distributed
• pronounced increase in collagen
• increase in mononuclear cells
• unusually small myotubes with very few centrally located nuclei
• changes are not enhanced compared to Dmd mutants
• severe myopathy observed in diaphragm, limb muscles, and back muscles




Genotype
MGI:4361735
cx34
Allelic
Composition
Dmdmdx/Dmdmdx
Spp1tm1Blh/Spp1tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Spp1tm1Blh mutation (2 available); any Spp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced diaphragm and cardiac fibrosis in Dmdmdx/Y Spp1tm1Blh/Spp1tm1Blh and Dmdmdx/Dmdmdx Spp1tm1Blh/Spp1tm1Blh mice compared to Dmdmdx/Dmdmdx mice

immune system
• muscles contain fewer granulocytes than in Dmdmdx homozygotes
• muscles contain fewer neutrophils than in Dmdmdx homozygotes
• muscles contain fewer CD3+/Vbeta8.1/8.2+, and NKT-like cells than in Dmdmdx homozygotes
• muscles contain more CD3+ T cells than in Dmdmdx homozygotes
• muscles contain more CD3+CD4+ regulatory T cells than in Dmdmdx homozygotes

muscle
• mice exhibit improved muscle regeneration and reduced muscle inflammation and fibrosis in the diaphragm and heart compared with Dmdmdx homozygotes

behavior/neurological
• at 4 and 8 weeks, mice exhibit increased strength on a wire and grip test compared with Dmdmdx homozygotes

hematopoietic system
• muscles contain fewer granulocytes than in Dmdmdx homozygotes
• muscles contain fewer neutrophils than in Dmdmdx homozygotes
• muscles contain fewer CD3+/Vbeta8.1/8.2+, and NKT-like cells than in Dmdmdx homozygotes
• muscles contain more CD3+ T cells than in Dmdmdx homozygotes
• muscles contain more CD3+CD4+ regulatory T cells than in Dmdmdx homozygotes




Genotype
MGI:4361734
cx35
Allelic
Composition
Dmdmdx/Y
Spp1tm1Blh/Spp1tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Spp1tm1Blh mutation (2 available); any Spp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced diaphragm and cardiac fibrosis in Dmdmdx/Y Spp1tm1Blh/Spp1tm1Blh and Dmdmdx/Dmdmdx Spp1tm1Blh/Spp1tm1Blh mice compared to Dmdmdx/Dmdmdx mice

immune system
• muscles contain fewer granulocytes than in Dmdmdx homozygotes
• muscles contain fewer neutrophils than in Dmdmdx homozygotes
• muscles contain fewer CD3+/Vbeta8.1/8.2+, and NKT-like cells than in Dmdmdx homozygotes
• muscles contain more CD3+ T cells than in Dmdmdx homozygotes
• muscles contain more CD3+CD4+ regulatory T cells than in Dmdmdx homozygotes

muscle
• mice exhibit improved muscle regeneration and reduced muscle inflammation and fibrosis in the diaphragm and heart compared with Dmdmdx homozygotes

behavior/neurological
• at 4 and 8 weeks, mice exhibit increased strength on a wire and grip test compared with Dmdmdx homozygotes

hematopoietic system
• muscles contain fewer granulocytes than in Dmdmdx homozygotes
• muscles contain fewer neutrophils than in Dmdmdx homozygotes
• muscles contain fewer CD3+/Vbeta8.1/8.2+, and NKT-like cells than in Dmdmdx homozygotes
• muscles contain more CD3+ T cells than in Dmdmdx homozygotes
• muscles contain more CD3+CD4+ regulatory T cells than in Dmdmdx homozygotes




Genotype
MGI:4936865
cx36
Allelic
Composition
Dmdmdx/Y
Terctm1Rdp/Terctm1Rdp
Genetic
Background
involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Terctm1Rdp mutation (4 available); any Terc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• second generation mice beginning at 48 weeks of age likely due to respiratory failure

muscle
• first and second generation mice exhibit a progressive reduction in revertant myofiber cluster size compared to in control mice
• at 8 weeks in second generation mice
• at 8 weeks in second generation mice
• in first and second generation mice
• diaphragms in first and second generation mice exhibit increased diameter compared with control mice
• by 76 weeks, diaphragm muscle is atrophied unlike in control mice
• in aged second generation mice
• in second generation mice with age
• in second generation mice
• second generation mice exhibit calcium depositions in the muscles unlike control mice
• second generation mice exhibit progressive muscular dystrophy with age unlike control mice
• however, dystrophic phenotypes are improved by transplantation with wild-type muscle stem cells
• in first and second generation mice prior to and after damage
• at 8 weeks, second generation mice exhibit increased myofiber membrane permeability compared with control mice
• second generation mice exhibit impaired muscle stem cell proliferation compared with control mice
• muscle stem cells from second generation mice exhibit impaired proliferative potential in culture compared with control cells
• muscle stem cells from second generation mice exhibit impaired engrafting after transplantation compared with control cells
• at 8 weeks in second generation mice
• at 8 weeks, first and second generation mice exhibit decreased muscle twitch force, tetanic force, and tetanic tension compared with control mice
• at 8 weeks, second generation mice spend less time running on a treadmill than control mice
• at 8 weeks, second generation mice hold onto a grid for less time than control mice

homeostasis/metabolism
• at 8 weeks, second generation mice spend less time running on a treadmill than control mice
• at 8 weeks in second generation mice, but declining after 60 weeks of age

cellular
• myoblasts from first and second generation exhibit shortened telomeres compared with control cells
• at 8 weeks in second generation mice
• myoblasts from first and second generation exhibit fused chromosomes unlike control cells

skeleton
• in aged second generation mice

respiratory system
• second generation mice beginning at 48 weeks of age likely due to respiratory failure

immune system
• at 8 weeks in second generation mice

behavior/neurological
• at 8 weeks, second generation mice spend less time running on a treadmill than control mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:167294




Genotype
MGI:4936867
cx37
Allelic
Composition
Dmdmdx/Y
Terctm1Rdp/Terc+
Genetic
Background
involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Terctm1Rdp mutation (4 available); any Terc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• diaphragms exhibit increased diameter compared with control mice
• muscle stem cell proliferation in undamaged muscles is higher than in control mice

homeostasis/metabolism




Genotype
MGI:2176892
cx38
Allelic
Composition
Dmdmdx/Y
Dtnatm1Jrs/Dtnatm1Jrs
Genetic
Background
involves: 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Dtnatm1Jrs mutation (1 available); any Dtna mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is 8-10 months

muscle
• develop moderate to severe cardiomyopathy
• exhibit a more severe dystrophy than single Dmdmdx mutant mice, but not as severe as that of double mutant Utrntm1Jrs and Dmd mdx mice or triple mutant Utrntm1Jrs, Dtnatm1Jrs, and Dmdmdx mice

cardiovascular system
• develop moderate to severe cardiomyopathy

nervous system
• at 2-4 months of age, synapses are broken into discrete boutons and acetylcholine receptors are patchily distributed within the boutons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:59675




Genotype
MGI:4889211
cx39
Allelic
Composition
Cmahtm1Avrk/Cmahtm1Avrk
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmahtm1Avrk mutation (5 available); any Cmah mutation (25 available)
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice

cellular
• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice

mortality/aging
• 50% of mice dying by 11 months of age
• mice exhibit decreased life span compared with Dmdmdx homozygotes

muscle
• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice
• in the quadriceps at 6 weeks of age
• fibrosis in the diaphragm is increased compared to in Dmdmdx homozygotes
• more severe than in Dmdmdx homozygotes
• at 8 months, mice exhibit impaired diaphragm and cardiac peak force compared with Dmdmdx homozygotes

behavior/neurological
• at 8 months on a rotarod to a greater extent than in Dmdmdx homozygotes
• at 8 months to a greater extent than in Dmdmdx homozygotes

immune system
• in muscles compared to in Dmdmdx homozygotes
• in muscles compared to in Dmdmdx homozygotes

hematopoietic system
• in muscles compared to in Dmdmdx homozygotes
• in muscles compared to in Dmdmdx homozygotes




Genotype
MGI:5490611
cx40
Allelic
Composition
Dmdmdx/Dmdmdx
Prkdcscid/Prkdcscid
Genetic
Background
involves: BALB/c * C57BL/10ScSn * C57BL/Ka
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Prkdcscid mutation (131 available); any Prkdc mutation (304 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 9.3% of total blood derived cells express B220+ and no expression of CD19+ cells as determined by cytofluorimetric analysis
• no expression of CD4+ cells as determined by cytofluorimetric analysis
• no expression of CD8+ cells as determined by cytofluorimetric analysis

homeostasis/metabolism
• mice exhibit a shorter time to exhaustion than wild type controls
• higher endurance on treadmill in double mutant than Dmdmdx mutants
• costal diaphragm (DIA) has a lower quantity of active TGFB1 in comparison to Dmdmdx mutant although total quantity is similar
• tibialis anterior (TA) and quadricepts (QA) muscles have a lower quantity of total TGFB1 in comparison to Dmdmdx mutant

immune system
• 9.3% of total blood derived cells express B220+ and no expression of CD19+ cells as determined by cytofluorimetric analysis
• no expression of CD4+ cells as determined by cytofluorimetric analysis
• no expression of CD8+ cells as determined by cytofluorimetric analysis

muscle
• area of muscle fibers is 1500-1800 um2 and coefficient of variance is 55-65
• small, centrally nucleated, regenerating muscle fibers are found in 2 and 12 month old mice
• 46-52% of muscle fibers exhibit centrally located nuclei
• degenerating muscle fibers are found in 2 and 12 month old mice
• aged 12 month old double mutant mice exhibit fibrosis, but less than in age-matched Dmdmdx mice
• loss of normalized tetanic force in the costal diaphragm (DIA) strips is observed in 2 and 12 month old mice as compared to wild type
• change appears lower in double mutant than in Dmdmdx mutants
• a similar decrease in normalized tetanic force occurs in the tibialis anterior (TA)

reproductive system
• double mutant mice are less fertile than Dmdmdx mice

skeleton
• progressive spinal deformity

behavior/neurological
• mice exhibit a shorter time to exhaustion than wild type controls
• higher endurance on treadmill in double mutant than Dmdmdx mutants




Genotype
MGI:5428739
cx41
Allelic
Composition
Dmdmdx/Dmdmdx
Tg(ACTA1-SSPN)3.0Rcros/0
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Tg(ACTA1-SSPN)3.0Rcros mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• dystrophic pathology observed in Dmdmdx mice is ameliorated with a decrease in centrally localized nuclei in skeletal muscles and reduced sarcolemmal membrane damage
• dystrophic pathology observed in Dmdmdx mice is ameliorated with a decrease in centrally localized nuclei in skeletal muscles and reduced sarcolemmal membrane damage
• dystrophic pathology observed in Dmdmdx mice is ameliorated with a decrease in centrally localized nuclei in skeletal muscles and reduced sarcolemmal membrane damage




Genotype
MGI:5521335
cx42
Allelic
Composition
Dmdmdx/Y
Foxn1nu/Foxn1nu
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Foxn1nu mutation (43 available); any Foxn1 mutation (97 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• elevated hydroxyproline levels in the heart, tibialis anterior and soleus when normalized to wet weight but not on a per muscle basis in mice at 3 weeks of age but not at 24 weeks of age
• unlike in mice homozygous for Dmdmdx alone, necrosis has not started at 3 weeks of age
• in the tibialis anterior at 3 weeks of age
• in the soleus muscles at 3 weeks of age




Genotype
MGI:5903046
cx43
Allelic
Composition
Dmdmdx/Y
Mirc37tm1Boet/Mirc37tm1Boet
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Mirc37tm1Boet mutation (0 available); any Mirc37 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• as in Dmdmdx homozygotes

homeostasis/metabolism
• as in Dmdmdx homozygotes




Genotype
MGI:6258417
cx44
Allelic
Composition
Dmdmdx/Dmdmdx
Selenostm1.1Sfa/Selenos+
Genetic
Background
involves: C57BL/6 * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Selenostm1.1Sfa mutation (0 available); any Selenos mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• compared with Dmdmdx homozygotes during the first two active hours at night
• compared with Dmdmdx homozygotes during the first two active hours at night
• elevated as in Dmdmdx homozygotes relative to wild-type mice

growth/size/body
• between 6 and 12 weeks compared with Dmdmdx homozygotes
• between 6 and 12 weeks compared with Dmdmdx homozygotes

muscle
N
• extensor digitalis longus and soleus muscles wet weight is normal
• increased number of small fibres and fewer large fibres than in Dmdmdx homozygotes
• however, there was no difference in the number of central nuclei suggesting normal regeneration




Genotype
MGI:6478907
cx45
Allelic
Composition
Dmdmdx/Dmdmdx
Snhg15tm1Nju/Snhg15tm1Nju
Genetic
Background
involves: C57BL/6J * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
Snhg15tm1Nju mutation (0 available); any Snhg15 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• normal body size and weight

muscle
N
• normal tibialis anterior (TA) and gastrocnemius (GAS) muscle weight at age 8 weeks
• more small diameter muscle fibers in tibialis anterior (TA) muscle weight at age 8 weeks
• increased diaphragm muscle fibrosis at age 6-8 months
• increased size of unrepaired areas in tibialis anterior (TA) muscle weight at age 8 weeks
• increased number of embryonic myosin heavy chain expressing myofibers in tibialis anterior (TA) muscle weight at age 8 weeks
• increased CD68+ macrophage infiltration in tibialis anterior (TA) muscle weight at age 8 weeks




Genotype
MGI:3798607
ot46
Allelic
Composition
Dmdmdx/Y
Genetic
Background
C57BL/10ScSn-Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

muscle
N
• limb and diaphragm muscle weights are similar to controls in mice at 1 year of age
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped
• cardiac myocyte disorganization
• unlike in wild-type mice, cardiac fiber degeneration with phagocytosis is observed
• cultured embryonic muscle stem cells from E11.5 to E17.5 exhibit hyperproliferation and apoptosis
• Pax7+ skeletal muscle stem cell population is reduced and disorganized at E17.5
• myotube alignment is disrupted early in myogenesis
• myotubes are hypotrophic in E13.5-E17.5 muscles
• myotube width varies more in E13.5-E17.5 muscles than in wild-type muscle
• myotube defects occur earlier in intercostals at E13.5 than proximal limb muscles at E15.5
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• myonuclei are more frequently located centrally and slightly further apart in the myotube at E15.5
• only central nuclei (not peripheral) are present in E15.5 muscles
• muscles exhibit a small reduction in myotube number at E13.5-E17.5
• at 15 days of age necrotic fibers are found, occassionally in clusters, at 20 days of age necrotic fibers are numerous as are groups of regenerating fibers with internally placed nuclei, necrotic fibers are most numerous between 30 and 60 days of age and gradually dissapear although a few scattered necrotic fibers are present at 120 and 180 days of age, and the regenerating fibers increase in size after 30 days of age and almost all of the fibers have internally placed nuclei by 60 to 120 days of age, but there is almost no fibrous tissue proliferation or adipose tissue replacement
• only central nuclei (not peripheral) are present in E15.5 muscles (J:150127)
(J:152525)
• mice exhibit skeletal muscle fiber degeneration with phagocytosis unlike in wild-type mice
• misalignment and tangential displacement of myotubes in intercostal muscles at E13.5-E17.5
• intercostal muscle fibers are distributed more sparsely at E17.5 and fetuses have reduced intercostal muscle fiber densities
• 37.5% depletion of intercostal myotubes by E17.5
• increased collagen deposition in the diaphragm and quadriceps muscles between 12 weeks and 1 year of age
• scattered hypercontracted fibers are found by electron microscopy at 10 days of age
• decrease in the tetanic force produced by the diaphragm and extensor digitorum longus muscles compared to wild-type controls
• electromyograms reveal peudomyotonia unlike in wild-type mice

behavior/neurological
N
• performance in a rotarod assay is not significantly different from controls in mice at 6 - 20 weeks of age
• in fore and hind paws
• increased hind paw base width
• at 1 year of age
• at 6 weeks of age, display a decrease in rearings after exercise compared to wild-type controls
• at 12 weeks of age, display a decrease in ambulation and increase in rest time after exercise compared to wild-type controls
• at 1 year of age, display a decrease in distance traveled after exercise compared to wild-type controls
• interindividual responses to exercise induced fatigue are highly variable

adipose tissue
• decrease in the accumulation of abdominal fat compared to wild-type controls

growth/size/body
• decrease in the accumulation of abdominal fat compared to wild-type controls
• between 8 and 20 weeks of age compared to wild-type controls
• however, body size as determined by measures of tibia length or body length is similar to wild-type controls

cardiovascular system
• cardiac myocyte disorganization
• unlike in wild-type mice, cardiac fiber degeneration with phagocytosis is observed
• distention or separation of the myocardial and endocardial cell layers of the atria occurs at E17.5
• atrial trabecular formation is impaired such that trabeculae at E14.5 are long and hook shaped

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:150127 , J:177391




Genotype
MGI:3789123
ot47
Allelic
Composition
Dmdmdx/Y
Genetic
Background
C57BL/10ScSn-Dmdmdx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• progressive starting at 9 weeks of age

behavior/neurological
• muscular tremors noticeable by 12 months of age
• mild incoordination noticeable by 12 months of age

immune system
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks and 2 years of age
• in splenocytes at 2 weeks, 4 weeks, and 2 years of age
• in splenocytes at 2 weeks of age
• in splenocytes at 2 weeks of age

homeostasis/metabolism
• exhibit elevated blood levels of creatine kinase
• exhibit elevated blood levels of pyruvate kinase

muscle
• progressive starting at 9 weeks of age
• development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina
• the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned
• variable muscle fiber size; progressive starting at 3 weeks of age
• exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells
• progressive starting at 3 weeks of age
• progressive starting at 3 weeks of age
• increased intracellular sodium concentration in muscle; increased severity with age
• progressive degenerative myopathy; increased severity with age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200
J:7361




Genotype
MGI:4366784
ot48
Allelic
Composition
Dmdmdx/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice show severe dystrophic changes in the muscle

homeostasis/metabolism
• marked elevation of pyruvate kinase levels is detectable by P21




Genotype
MGI:4359635
ot49
Allelic
Composition
Dmdmdx/Y
Genetic
Background
involves: C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• conspicuous necrosis and regeneration at 3 weeks of age
• scattered foci of necrotizing fibers surrounded by cellular infiltration can be found in soleus and plantaris muscles as early as 14 days of age, and subsequently in the tibialis anterior, and lastly the extensor digitorum longus with foci of basophilic myotubes being found from 4 weeks of age on

immune system
• at 3 months of age, the diaphragm shows multiple endomysial foci of mononuclear inflammatory cells
• at 3 months of age, quadriceps show multiple endomysial foci of mononuclear inflammatory cells
• however, at 6 months, endomysial inflammation is reduced in quadriceps and only scattered inflammatory cells are present

muscle
• conspicuous necrosis and regeneration at 3 weeks of age
• scattered foci of necrotizing fibers surrounded by cellular infiltration can be found in soleus and plantaris muscles as early as 14 days of age, and subsequently in the tibialis anterior, and lastly the extensor digitorum longus with foci of basophilic myotubes being found from 4 weeks of age on
• at 3 months of age, the diaphragm shows multiple endomysial foci of mononuclear inflammatory cells
• at 3 months of age, quadriceps show multiple endomysial foci of mononuclear inflammatory cells
• however, at 6 months, endomysial inflammation is reduced in quadriceps and only scattered inflammatory cells are present
• the extensor digitorum longus, but not the soleus, at 32 weeks of age has a greater proportion of fast-twitch-oxidative-glycolytic fibers and a smaller proportion of fast-twitch-glycolytic fibers than controls
• although the number of fibers is normal, the cross-sectional area of the fibers of the tibialis anterior is larger than normal at 3 and 6 months of age (J:19034)
• at 32 weeks of age in the soleus fast-twitch-oxidative-glycolytic fibers have a larger cross-sectional area than those of controls (J:152749)
• at 32 weeks of age in the extensor digitorum longus muscle both the slow-twitch-oxidative and fast-twitch-glycolytic fibers have a larger cross-sectional area than those of controls (J:152749)
• peripherally nucleated fibers replace the normal fibers in the tibialis anterior, extensor digitorum longus, plantaris, and soleus in a progressive manner, reaching a plateau of 80-90% of fibers at 26 weeks of age
• elevated hydroxyproline in the diaphragm at 24 weeks of age but not at 3 weeks of age (J:95776)
• unlike skeletal muscle, the diaphragm undergoes progressive degeneration without regeneration such that, although at 30 days of age foci of myofiber degeneration, necrosis, mineralization, and regeneration are present but not extensive, at 6 months of age the diaphragm has a wide variation in myofiber size and architecture, continued necrosis and connective tissue proliferation, and at 16 months of age the diaphragm is pale due to the extensive myofiber loss and replacement fibrosis and the remaining fibers are ensheathed in dense collagenous tissue with most having architectural aberrations (J:152891)
• at 16 months of age there are twice normal levels of slow myosin in the diaphragm, a decrease in isometric force generation, and a shortened fiber length (J:152891)
• at 1.5 years of age the diaphragm is found to have significantly reduced passive stretch capacity although overt respiratory compromise is not found in aging mutants (J:152891)
• the anterior scalene and intercostal muscles at 1 to 1.5 years of age have dystrophic changes similar to those of the diaphragm at 6 months of age
• the cross-sectional area and wet weight of the tibialis anterior is greater than normal by 10 weeks of age
• detectable up to 12 months of age but not at 15 months of age, at which point muscle fibers appear atrophied and extensively split
• found with age in the soleus and plantaris (J:19034)
• mice develop progressive endomysial fibrosis with increased collagen III deposition in the diaphragm (J:140282)
• at 23 degrees hemidiaphragm preparations show lower than normal resting membrane potentials and insertion of a glass microelectrode into a single muscle fiber results in repetitive bursts of muscle action potentials in 30 to 50% of fibers, while at 37 degrees only 7.8% of muscle fibers display this electrical myotonia and the resting membrane potentials are normal
• at 4 weeks of age the soleus muscle has decreased twitch and tetanus tension compared with controls, but this is normal by 32 weeks of age
• at 3 and 32 weeks of age the extensor digitorum longus muscle has decreased twitch and tetanus tension and faster time-to-peak twitch tension compared with controls and the maximum velocity of unloaded shortening is also decreased at 32 weeks of age

vision/eye
N
• hemizygous males between 20 and 24 weeks of age have normal ERG readings even though abnormal b-waves are often found in Duchenne Muscular Dystrophy patients and are found in the mdx-3cv hemizygotes
• nuclear opacity of the lens is found at 1 day of age
• a slight anterior subcapsular opacity is seen at 4 days of age, which spreads anteriorly such that at 150 days of age there is complete anterior subcapsular opacity in addition to the nuclear opacity

nervous system
N
• at 8 weeks of age miniature endplate potential frequency, the quantal content of endplate potentials, the amplitude and time course of miniature endplate currents, and the number of acetylcholine receptors at the postsynaptic membrane are all normal
• although the nerve terminal innervation of epitronchleoanoconeus muscle is normal, the terminal architecture of regenerated muscle fibers, those with central nuclei, are more complex than normal with an increase in the number of fine terminal arborizations, many of which have bouton-like swellings and, rather than the normal confluent pattern at postsynaptic regions, staining of acetylcholine receptors is found in numerous small spots corresponding to the boutons on the motor axon terminals with acetylcholinesterase staining in close association
• electron microscopy shows that neuromuscular junction postsynaptic membranes are variably simplified with a reduction in the number of secondary synaptic folds




Genotype
MGI:3716194
ot50
Allelic
Composition
Dmdmdx/?
Genetic
Background
B6.B10ScSn-Dmdmdx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (28 available); any Dmd mutation (156 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscles contain occasional patches of pale tissue which are primarily connective tissue
• when mice are injected with the diazo dye EBD, dye is taken up by damaged muscle fibers to varying degrees, but preferentially into the hindlimb; uptake occurs because of focal breakdown of plasmalemma which is an early event in necrosis
• muscles are not stained homogeneously, but streaks of dye representing damaged muscle fibers are observed in the muscle fibers of the diaphragm and gluteus maximus; damage is less severe than in Fgf2/Fgf6/Dmd triple mutants
• mutants show dystrophic changes to the muscle fibers, although less severely than Fgf2/Fgf6/Dmd triple mutants





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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory