These mice contain the R155H mutation of the valosin containing protein (Vcp) gene, commonly found in patients with Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD). IBMPFD is characterized by progressive muscle weakness, bone deformities and extensive neuro-degeneration resulting in respiratory and cardiac failure. Heterozygotes are viable and fertile, while homozygotes do not breed. Heterozygous mice exhibit progressive muscle weakness starting at six months of age, with progressive vacuolization of myofibrils and centrally located nuclei within the muscle. The quadriceps myofibrils and brain contain cytoplasmic accumulation of TDP-43 and ubiquitin-positive inclusion bodies. Muscle fibers show central nucleation and altered sarcomere ultrastructure, as well as increased autophagy and apoptosis. Bone marrow derived macrophages from these mice display an increased rate of osteoclastogenesis. Distal femurs and proximal tibiae show decreased trabecular connectivity density, increased cortical wall thickness, and decreased bone density. 15% of heterozygous mice exhibit seizures.

These VcpR155 mice contain a mutation of the valosin containing protein (Vcp) gene, commonly found in patients with Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD).

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Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.