Phenotypes Associated with This Genotype

Genotype
MGI:4440449

• Allelic Composition: Tg(CAG-VCP*R155H)55Jpat/0
• Genetic Background: involves: C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:158713 )

premature death ( J:158713 )

• mice exhibit decreased survival compared with wild-type mice

skeleton

abnormal bone structure ( J:158713 )

• mice exhibit increased bone surface to bone volume compared with wild-type mice

decreased bone volume ( J:158713 )

• mice exhibit decreased bone volume to total volume compared with wild-type mice

abnormal compact bone morphology ( J:158713 )

• at 13 months of age, cortical bone density is reduced compared to in wild-type mice

increased compact bone thickness ( J:158713 )

• at 13 months of age, mice exhibit occasional focal areas of thickening cortical bone compared with wild-type mice

abnormal trabecular bone morphology ( J:158713 )

• at 13 months of age, trabecular thickness and number are decreased while spacing is increased compared to in wild-type mice

decreased bone trabecula number ( J:158713 )

decreased trabecular bone thickness ( J:158713 )

• at 13 months of age

muscle

abnormal sarcomere morphology ( J:158713 )

• disorganized and degenerating

abnormal skeletal muscle fiber morphology ( J:158713 )

• skeletal muscle fibers exhibit rimmed vacuoles, disorganized sarcomeres, and scattered mitochondria that are enlarged and increased in number unlike in wild-type cells

skeletal muscle degeneration ( J:158713 )

• at 9 months of age, rimmed vacuoles are present in skeletal muscles unlike in wild-type muscle indicating degeneration

progressive muscle weakness ( J:158713 )

• 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

myopathy ( J:158713 )

• at 9 months of age, mice exhibit rimmed vacuoles and TDP-43 (Tardbp)+ myopathy unlike wild-type mice

behavior/neurological

increased anxiety-related response ( J:158713 )

• at 16 weeks in an elevated zero maze

abnormal response to novel object ( J:158713 )

• at 14 months, mice exhibit decreased exploration of a novel object after 24 hours of training compared with wild-type mice

decreased grip strength ( J:158713 )

• at 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

gliosis ( J:158713 )

• mild at 14 months

abnormal neuron morphology ( J:158713 )

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

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:158713 )

increased circulating creatine kinase level ( J:158713 )

growth/size/body

weight loss ( J:158713 )

• beginning at 9 months age and continuing as mice age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inclusion body myopathy with Paget disease of bone and frontotemporal dementia		DOID:0050881	OMIM:PS167320	J:158713