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Phenotypes Associated with This Genotype
Genotype
MGI:2176866
Allelic
Composition
Sgcatm1Kcam/Sgcatm1Kcam
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcatm1Kcam mutation (3 available); any Sgca mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sgcatm1Kcam/Sgcatm1Kcam mice display a progressive muscular dystrophy

muscle
N
• mice exhibit normal diaphragm morphology
• at 2 months of age with large areas of necrotic areas, inflammatory infiltration, and centralized nuclei
• at 2 months of age
• severe at 1 year of age
• earliest pathological changes in skeletal muscles are widely scattered clusters of necrotic myocytes or regenerating myocytes with internally placed nuclei; such clusters increased in number and size as mice age
• fiber splitting is observed in some mutant muscle
• membrane damage is exhibited in muscles as shown by uptake of Evans blue dye in 4-20 week-old mice, and by elevated serum levels of creatine kinase and muscle-specific pyruvate kinase activity in 7-10 week-old animals
• at 8 days of age, between 1 and 2.5% of sural triceps and diaphragm myocytes respectively have central nuclei; by 8-16 weeks, more than 70% (as high as 99%) of myocytes have central nuclei
• EDL muscle weight is 40% greater than controls
• soleus muscle weight is 62% greater than in controls
• dystrophic calcification is noted in some muscles in association with myocyte necrosis in mice 8 weeks or older
• other dystrophic changes including atrophy, hypertrophy, and endomysial fibrosis are observed in mutant muscle; fatty infiltration is present in some muscles of 16 week old animals
• the specific Po of the EDL muscle is 31% lower than that of controls, while in soleus muscle, the Po is 39% greater
• resistance to passive muscle stretch is 75% greater than in controls

homeostasis/metabolism
• elevated serum levels of creatine kinase activity in 7-10 week-old animals (J:49992)
• mutants show significantly elevated levels of creatine kinase in the blood, relative to wild-type (J:130252)
• elevated muscle-specific pyruvate kinase activity in serum of 7-10 week-old animals

cardiovascular system
• mild at 6 months of age
• at 2 months of age with large areas of necrotic areas, inflammatory infiltration, and centralized nuclei

immune system

Mouse Models of Human Disease
OMIM ID Ref(s)
Muscular Dystrophy, Limb-Girdle, Type 2D; LGMD2D 608099 J:49992


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory