About   Help   FAQ
Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga7tm1Burk mutation (1 available); any Itga7 mutation (14 available)
Sspntm1Kcam mutation (2 available); any Sspn mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 10% of mutants do not survive past 4 weeks of age and by 8 months of age, viability it reduced to 50%

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

• 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
• 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
• 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

• diaphragms exhibit increased susceptibility to eccentric contraction-induced damage as measured by the percent drop in force

• 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
DO ID OMIM ID(s) Ref(s)
Duchenne muscular dystrophy DOID:11723 OMIM:310200

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory