Mouse Genome Informatics
ht
    Vcptm1Itl/Vcp+
B6.129S-Vcptm1Itl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
muscle
• beginning at 9 months, myofibrils exhibit vacuoles unlike in wild-type mice
• at 15 months, myofibrils contain more vacuoles than wild-type cells
• myofibrils exhibit disorganized sarcomere and swelling of mitochondria unlike in wild-type mice
• myofibrils exhibit Tardbp+ (TDP-43) and ubiquitin+ cytoplasmic inclusion bodies unlike in wild-type mice
• at 9 to 10 months and 15 months
• at 6 months and worsening with age, as determined by performance on a rotarod and grip strength test
• muscles exhibit increased autophagy and apoptosis compared with wild-type muscles

behavior/neurological
N
• mice exhibit normal short term memory (J:166230)
• at 3 months and worsening with age on a rotarod
• at 3 months and worsening with age
• in up to 15% of mice

skeleton
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells
• mice exhibit increased osteoclasts compared with wild-type mice
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells
• trabecular pattern factor is decreased compared to in wild-type mice
• mice exhibit radiolucency of distal femurs and proximal tibiae compared with wild-type mice

nervous system
• in up to 15% of mice
• at 15 month, neurons in the frontal cortex exhibit a Tardbp+ (TDP-43) and ubiquitin+ inclusions unlike in wild-type mice

immune system
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells
• mice exhibit increased osteoclasts compared with wild-type mice
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells

cellular
• muscle tissue exhibits autophagy unlike in wild-type tissue
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells

hematopoietic system
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells
• mice exhibit increased osteoclasts compared with wild-type mice
• bone marrow derived macrophages form more osteoclasts in culture than wild-type cells

Mouse Models of Human Disease
OMIM IDRef(s)
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1; IBMPFD1 167320 J:166320