About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3621491
Allelic
Composition
Dmdmdx/Dmdmdx
Genetic
Background
C57BL/10ScSn-Dmdmdx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmdmdx mutation (32 available); any Dmd mutation (153 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/23/2021
MGI 6.16
The Jackson Laboratory