Allele Symbol Allele Name Allele ID |
Flnctm1.1Rsdf targeted mutation 1.1, Rolf Schroder and Dieter O Furst MGI:5907163 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• myofibrillar myopathy-related protein aggregates are not detected
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• areas of myofibrillar degeneration with disassembled Z-discs associated with fused, enlarged mitochondria are seen in the soleus muscle
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• at 3 months of age, fibers from the soleus muscle show Z-disc streaming indicating sarcomeric disruptions
• micro- (spanning 5 sarcomeres) and macro-lesions are seen, with macro-lesions frequently seen in close association with blood vessels
• muscle lesion formation is exacerbated in limb muscles and diaphragm by acute strenuous treadmill exercise
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• at 3 months of age, fibers from the soleus muscle show Z-disc streaming indicating sarcomeric disruptions
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• in the soleus muscle various stages of myofibril degeneration are seen suggesting a progressive and profound remodelling of sarcomeric structures
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• slightly decreased
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• decreased latency to fall in a hanging wire test that is significant at 10 months of age
• significant decrease in grip strength at the 4 months of age and at 4 and 8 months of age in the 4-paw and forelimb grip strength assays, respectively
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• significant decrease in rearing activity following acute exercise
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• significant reduction in total locomotor activity after acute exercise
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• slightly lower at baseline conditions
• mean dark-phase RER values are significantly reduced after acute exercise due to a lower mean CO2 production
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
myofibrillar myopathy 5 | DOID:0080096 |
OMIM:609524 |
J:226976 |
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 08/21/2024 MGI 6.24 |
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