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Phenotypes Associated with This Genotype
Genotype
MGI:4849542
Allelic
Composition
Vcptm1Itl/Vcp+
Genetic
Background
B6.129S-Vcptm1Itl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vcptm1Itl mutation (1 available); any Vcp mutation (30 available)
phenotype observed in females
phenotype observed in males
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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory