Mouse Genome Informatics
hm1
    Sspntm1Kcam/Sspntm1Kcam
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• 7 days after cardiotoxin-induced injury, mice exhibit increased muscle damage and repair (day 7 and 14) compared with wild-type mice (J:185346)
• however, treatment with viral Akt restores muscle repair (J:185346)
• diaphragms exhibit increased susceptibility to eccentric contraction-induced injury as measured by the percent drop in force (J:187752)

muscle
• quadriceps muscle weighs more than wild-type muscle
• diaphragms and quadriceps muscles exhibit greater numbers of large myofibers and fewer smaller fibers than wild-type
• diaphragms exhibit a 30% reduction in specific muscle force values compared with wild-type
• however, force generation is normal is extensor digitorum longus and soleus muscles


Mouse Genome Informatics
hm2
    Sspntm1Kcam/Sspntm1Kcam
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
muscle
N
• homozygous mice exhibit normal muscle histology and physiology (J:60294)


Mouse Genome Informatics
cx3
    Itga7tm1Burk/Itga7tm1Burk
Sspntm1Kcam/Sspntm1Kcam

involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 10% of mutants do not survive past 4 weeks of age and by 8 months of age, viability it reduced to 50%

growth/size/body
• reduced body weight compared to wild-type and Sspn single homozygotes

muscle
• widespread fibrosis and adiposity in the diaphragm at 4.5 months of age and by 9 months of age, diaphragms show significant fibrotic collagen deposition and fat replacement
• quadriceps muscles at 4.5 months of age exhibit sarcolemma damage as indicated by Evan's blue dye accumulation
• mutants exhibit myopathy at 4.5 months of age, with centrally placed nuclei in skeletal muscles indicating muscle regeneration
• mutants exhibit a greater increase in interstitial connective tissue between myofibers of the diaphragm compared to Itga7 single homozygotes
• mutants exhibit an increase in collagen deposition in the diaphragm and widespread fibrosis and adiposity at 4.5 months of age
• quadriceps muscles show severely diminished levels of laminin and sarcolemma damage
• quadriceps muscle weights less than in either single homozygote
• diaphragms and quadriceps muscles exhibit greater numbers of small myofibers (more than 2-fold increase) and fewer larger fibers
• reduced wet muscle mass compared to wild-type and Sspn single homozygotes
• diaphragms exhibit a 51% reduction in specific muscle force values compared with wild-type
• increase in myofiber regeneration at 4.5 months of age, with a 16-fold increase in regeneration in the diaphragm
• mutants exhibit myopathy at 4.5 months of age

homeostasis/metabolism
• diaphragms exhibit increased susceptibility to eccentric contraction-induced damage as measured by the percent drop in force
• widespread fibrosis and adiposity in the diaphragm at 4.5 months of age and by 9 months of age, diaphragms show significant fibrotic collagen deposition and fat replacement

skeleton
• severe kyphosis at 4.5 months of age as evidenced by the steep slope of the spine behind the shoulder blades, which is exacerbated at 6 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy, Duchenne Type; DMD 310200 J:187752