Mouse Genome Informatics
tg
    Tg(CAG-VCP*A232E)93Jpat/0
involves: C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice exhibit decreased survival compared with wild-type mice

skeleton
• mice exhibit increased bone surface to bone volume compared with wild-type mice
• mice exhibit decreased bone volume to total volume compared with wild-type mice
• at 13 months of age, cortical bone density is reduced compared to in wild-type mice
• at 13 months of age, mice exhibit occasional focal areas of thickening cortical bone compared with wild-type mice
• at 13 months of age, trabecular thickness and number are decreased while spacing is increased compared to in wild-type mice
• at 13 months of age

muscle
• disorganized and degenerating
• skeletal muscle fibers exhibit rimmed vacuoles, disorganized sarcomeres, and scattered mitochondria that are enlarged and increased in number unlike in wild-type cells
• at 9 months of age, rimmed vacuoles are present in skeletal muscles unlike in wild-type muscle indicating degeneration
• beginning at 3 to 6 months of age and worsening with age, mice exhibit reduced performance in a hanging wire test compared with wild-type mice
• at 9 months of age, mice exhibit rimmed vacuoles and TDP-43 (Tardbp)+ myopathy unlike wild-type mice

behavior/neurological
• at 16 weeks in an elevated zero maze
• at 14 months, mice exhibit decreased exploration of a novel object after 24 hours of training compared with wild-type mice
• at 16 and 20 weeks, mice exhibit a deficit in hanging wire performance compared with wild-type mice
• beginning at 3 to 6 months of age and worsening with age, mice exhibit reduced performance in a hanging wire test compared with wild-type mice

nervous system
• mild at 14 months
• at 14 months of age, mice exhibit ubiquitin+ and TDP-43 (Tardbp)+ neuropathology unlike wild-type mice

homeostasis/metabolism

growth/size
• beginning at 9 months age and continuing as mice age

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:158713