Phenotypes Associated with This Genotype

Genotype
MGI:5508557

• Allelic Composition: Tg(Thy1-VCP*A232E)BMaki/0
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

impaired contextual conditioning behavior ( J:199083 )

• mutants show impaired contextual fear conditioning at 6 and 12 months of age

abnormal object recognition memory ( J:199083 )

• object recognition at 12 months of age is impaired in recalling a familiar object

abnormal spatial learning ( J:199083 )

• mutants show impairment in Morris water maze acquisition at 6 and 12 months of age

• probe trial escape latency in the Morris water maze indicates impaired memory retention at 12 months of age

nervous system

abnormal neuron morphology ( J:199083 )

• abnormal accumulation of TDP-43 in neurons; focal accumulation of TDP-43 is co-localized with stress granules and/or ubiquitin in the cortex; accumulation of TDP-43 is predominantly of the high-molecular weight form

neuronal cytoplasmic inclusions ( J:199083 )

• mutants exhibit abnormal accumulation of TDP-43 in the cytoplasm of neurons

• mutants show an increase in the number of neurons with ubiquitin cytosolic inclusions

• however, neurodegeneration is not observed

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:199083