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Phenotypes Associated with This Genotype
Genotype
MGI:2661118
Allelic
Composition
Dysftm1Kcam/Dysftm1Kcam
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dysftm1Kcam mutation (3 available); any Dysf mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Muscle inflammation in Dysftm1Kcam/Dysftm1Kcam mice

cellular
• significant skeletal muscle necrosis with macrophage infiltration and fat replacement is evident by 8 months of age

immune system
• muscle from 8 month, but not 4 month old, mice shows small numbers of infiltrating lymphocytes; both perivascular and endomysial leukocytes are seen

muscle
• significant skeletal muscle necrosis with macrophage infiltration and fat replacement is evident by 8 months of age
• muscle from 8 month, but not 4 month old, mice shows small numbers of infiltrating lymphocytes; both perivascular and endomysial leukocytes are seen
• plasma membrane disruptions are identified with Evans blue by 8 months of age
• however, minimal sarcolemma damage is detected in mutant muscle after exercise, indicating the presence of a functional dystrophin-glycoprotein complex (DGC) and stable sarcolemma
• at 9 months of age, a significantly greater muscle fiber size variation is noted in mutant skeletal muscle than in wild-type muscle (J:83126)
• ~10% of all fibers in mutant skeletal muscle are centrally nucleated by 2 months of age, 20% by 4 months of age, and 48% and 65% by 8 and 10 months, respectively (J:83126)
• active skeletal muscle regeneration occurs in response to muscle degeneration, as evidenced by the presence of centrally nucleated skeletal muscle fibers and increased variability in fiber size
• homozygotes develop a slowly progressive muscular dystrophy at the level of single muscle fibers, as evidenced by the presence of individual Evans-blue positive fibers
• the % of centrally nucleated fibers increases with age, with a few individual necrotic and centrally nucleated fibers first evident at 2 months of age
• by 8 months of age, dystrophic skeletal muscle exhibits regenerating fibers, split fibers, and muscle necrosis with macrophage infiltration, and fat replacement
• the severity of muscle pathology varies in different skeletal muscles
• in response to sarcolemma injuries, mutant skeletal muscle fibers display sub-sarcolemmal vesicle accumulations, whereas wild-type damaged fibers exhibit only dysferlin-enriched membrane patches
• unlike wild-type muscle fibres, mutant skeletal muscle fibres are defective in Ca2+-dependent sarcolemma resealing, indicating a disruption of the muscle membrane repair machinery

homeostasis/metabolism
• homozygotes exhibit a several-fold increase in serum creatine kinase levels relative to wild-type mice (J:83126)
• both before and after exercise (J:171870)


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
10/08/2019
MGI 6.14
The Jackson Laboratory