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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dysftm1Kcam
targeted mutation 1, Kevin P Campbell
MGI:2661116
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dysftm1Kcam/Dysftm1Kcam involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2661118
cx2
C3tm1Crr/C3tm1Crr
Dysftm1Kcam/Dysftm1Kcam
B6.129-Dysftm1Kcam C3tm1Crr MGI:5295996


Genotype
MGI:2661118
hm1
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 (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• 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
• ~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
• 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
• significant skeletal muscle necrosis with macrophage infiltration and fat replacement is evident by 8 months of age
• 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




Genotype
MGI:5295996
cx2
Allelic
Composition
C3tm1Crr/C3tm1Crr
Dysftm1Kcam/Dysftm1Kcam
Genetic
Background
B6.129-Dysftm1Kcam C3tm1Crr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C3tm1Crr mutation (2 available); any C3 mutation (38 available)
Dysftm1Kcam mutation (3 available); any Dysf mutation (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• significantly reduced dystrophic phenotype





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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