Phenotypes Associated with This Genotype

Genotype
MGI:5828845

• Allelic Composition: Tg(Prnp-TARDBP*Q331K)31Dwc/?
• Genetic Background: involves: C3H * C57BL/6

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

behavior/neurological

limb grasping ( J:239141 )

tremors ( J:239141 )

• mild tremors

impaired coordination ( J:239141 )

• mild, progressive motor dysfunction as assessed by rotarod

hematopoietic system

microgliosis ( J:239141 )

• modest increase in microglial activation in white matter tracts of the spinal cord as compared to controls

• microgliosis is observed in layer V of the cortex of 24 month old mice

immune system

microgliosis ( J:239141 )

• modest increase in microglial activation in white matter tracts of the spinal cord as compared to controls

• microgliosis is observed in layer V of the cortex of 24 month old mice

muscle

abnormal skeletal muscle fiber morphology ( J:239141 )

• mild disorganization of muscle fibers in aged mice

nervous system

astrocytosis ( J:239141 )

• astrogliosis is detected in the anterior horn of the spinal cord

• mild astrogliosis is observed in layer V of the cortex of young mice

microgliosis ( J:239141 )

• modest increase in microglial activation in white matter tracts of the spinal cord as compared to controls

• microgliosis is observed in layer V of the cortex of 24 month old mice

decreased cerebral cortex pyramidal cell number ( J:239141 )

• loss (14%) of pyramidal neurons from the cortex in 24 month old mice

abnormal neocortex morphology ( J:239141 )

• microgliosis is observed in layer V of the cortex of 24 month old mice

• mild astrogliosis is observed in layer V of the cortex of young mice

abnormal neuromuscular synapse morphology ( J:239141 )

• mild (15%) reduction in intact neuromuscular junctions (NMJ) is observed in young mice

• 35% reduction in number of intact neuromuscular junctions in aged mice

• reduction in NMJ area is observed in 24 month old mice

neuronal cytoplasmic inclusions ( J:239141 )

• small, but increasing number of cytoplasmic p62+ inclusions are observed in spinal cord of 8 week old mice; ubiquitin aggregation is not observed

• small cytoplasmic p62+ and TARDBP inclusions, as well as occasional ubiquitin inclusions are observed in motor and somatosensory cortices of 24 month old mice

neuronal intranuclear inclusions ( J:239141 )

• occasional TARDBP inclusions are observed in neuropil of 24 month old mice

• small number of ubiquitin and p62 + aggregates observed in motor cortex of 8 week and 24 month animals

abnormal spinal cord ventral horn morphology ( J:239141 )

• astrogliosis is detected in the anterior horn of the spinal cord

• modest increase microglial activation in white matter tracts of the spinal cord

• small, but increasing number of cytoplasmic p62+ inclusions are observed in spinal cord of 8 week old mice; ubiquitin aggregation is not observed

cellular

astrocytosis ( J:239141 )

• astrogliosis is detected in the anterior horn of the spinal cord

• mild astrogliosis is observed in layer V of the cortex of young mice

microgliosis ( J:239141 )

• modest increase in microglial activation in white matter tracts of the spinal cord as compared to controls

• microgliosis is observed in layer V of the cortex of 24 month old mice