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Phenotypes Associated with This Genotype
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 (33 available); any Dmd mutation (167 available)
Prkdcscid mutation (144 available); any Prkdc mutation (400 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/06/2026
MGI 6.24
The Jackson Laboratory