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Phenotypes Associated with This Genotype
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vcptm1Itl mutation (1 available); any Vcp mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• in muscle tissue

• lethality is seen from birth to 21 days of age

• small at birth and remain small

• mutants are unable to complete the grip strength test due to severe muscle weakness

• quadriceps muscles show abnormal sarcomeric architecture
• increase in endomysial space
• quadriceps muscles show abnormal mitochondrial proliferation with large megaconia and disrupted cristae
• increase in the number of internal nucleation and splitting myofibers
• myofibrils contain ubiquitin aggregates and inclusions and small angular muscle fibers contain TDP-43 positive sarcoplasmic inclusions
• infiltration of triglycerides and lipids in quadriceps muscle fibers
• poor mobility due to muscle weakness
• myopathic changes in the bilateral tibialis anterior, bilateral hamstrings and bilateral medial gastrocnemius, and unilateral thoracic paraspinal muscles
• muscles show abnormal motor units and myotonic discharge and a reduction in recruitment and interference patterns
• muscles show increased autophagy

cardiovascular system
• enlarged vacuoles, dilated vascular channels, and abnormal architecture of the channels in the heart
• however, ventricle wall thickness and mass are normal and function appears normal

• mitochondrial cristae are disrupted in quadriceps muscles
• in muscle tissue
• quadriceps muscles show abnormal mitochondrial proliferation

• hairless patches of skin resembling ichthyosis-like thickening

• non-symmetrical Paget-like bone lesions of the right hind limb bone

nervous system
• brain shows absence of well-defined synaptic complexes, post-synaptic enlargement and vesicular degeneration
• perinuclear and cytosolic accumulation of ubiquitin-positive deposits are seen in the brain
• increase in GFAP staining suggesting gliosis
• rapid motor neuron degeneration in spinal cords

• non-symmetrical Paget-like bone lesions of the right hind limb bone

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
MGI 6.14
The Jackson Laboratory