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Phenotypes Associated with This Genotype
Genotype
MGI:3850524
Allelic
Composition
Sgcbtm1Oza/Sgcbtm1Oza
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcbtm1Oza mutation (1 available); any Sgcb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• at 3 weeks, mononuclear cell infiltration within muscles occurs unlike in wild-type mice
• mice exhibit muscular hypertrophy (tibialis anterior, gastrocnemius, and quadriceps femoris) compared with wild-type mice
• mice exhibit stripes of degenerating muscle fibers unlike wild-type mice that worsens with age
• muscle degeneration is observed at 2 weeks of age along with muscle regeneration
• at 2 weeks in the soleus and tibialis anterior
• at 8 weeks in the quadricep
• with extensive muscle degeneration and regeneration

growth/size/body
• at 8 weeks, mice appear brawny with hypertrophic shoulders and limbs compared with wild-type mice
• at 20 weeks, female mice are hypertrophic and larger with increased body weight compared with wild-type mice
• at 20 weeks, female mice are hypertrophic and larger with increased body weight compared with wild-type mice

cardiovascular system
• at 56 weeks, many scattered patches of fibrosis are observed in the heart wall unlike in wild-type mice

immune system
• at 3 weeks, mononuclear cell infiltration within muscles occurs unlike in wild-type mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Muscular Dystrophy, Limb-Girdle, Type 2E; LGMD2E 604286 J:57590


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
04/19/2016
MGI 6.03
The Jackson Laboratory