Phenotypes Associated with This Genotype

Genotype
MGI:5907165

• Allelic Composition: Flnc^tm1.1Rsdf/Flnc⁺
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

muscle phenotype ( J:226976 )

N • myofibrillar myopathy-related protein aggregates are not detected

abnormal muscle fiber morphology ( J:226976 )

• areas of myofibrillar degeneration with disassembled Z-discs associated with fused, enlarged mitochondria are seen in the soleus muscle

abnormal sarcomere morphology ( J:226976 )

• 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

abnormal Z line morphology ( J:226976 )

• at 3 months of age, fibers from the soleus muscle show Z-disc streaming indicating sarcomeric disruptions

skeletal muscle fiber degeneration ( J:226976 )

• in the soleus muscle various stages of myofibril degeneration are seen suggesting a progressive and profound remodelling of sarcomeric structures

behavior/neurological

decreased food intake ( J:226976 )

• slightly decreased

decreased grip strength ( J:226976 )

• 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

decreased vertical activity ( J:226976 )

• significant decrease in rearing activity following acute exercise

decreased locomotor activity ( J:226976 )

• significant reduction in total locomotor activity after acute exercise

homeostasis/metabolism

decreased respiratory quotient ( J:226976 )

• slightly lower at baseline conditions

• mean dark-phase RER values are significantly reduced after acute exercise due to a lower mean CO2 production

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myofibrillar myopathy 5		DOID:0080096	OMIM:609524	J:226976