Phenotypes Associated with This Genotype

Genotype
MGI:5463233

• Allelic Composition: Tg(Prnp-TARDBP*Q331K)103Dwc/?
• Genetic Background: involves: C57BL/6 * C3H

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

behavior/neurological

limb grasping ( J:191785 )

• hind limb clasping develops by 3 months of age

tremors ( J:191785 )

• develop tremors around 3 months of age

impaired coordination ( J:191785 )

• motor deficits appear by 3 months when tested on a rotarod

decreased grip strength ( J:191785 )

• in hind limbs

muscle

skeletal muscle degeneration ( J:191785 )

• regions of damaged muscle fibers and other areas of regeneration

abnormal muscle physiology ( J:191785 )

abnormal muscle electrophysiology ( J:191785 )

• spontaneous gastrocnemius muscle fibrillations

• reduced myogenic motor evoked potentials after stimulation of motor cortex

abnormal muscle regeneration ( J:191785 )

• regions of damaged muscle fibers and other areas of regeneration

nervous system

abnormal nervous system morphology ( J:191785 )

decreased motor neuron number ( J:191785 )

• age dependent decrease in motor neuron number of about 35%

• most significant reductions in large caliber alpha motor axons at 10-12 months

abnormal neuromuscular synapse morphology ( J:191785 )

• reduced number of gastrocnemius neuromuscular junction endplates

abnormal spinal cord white matter morphology ( J:191785 )

abnormal spinal cord dorsal column morphology ( J:191785 )

• minor degeneration

abnormal spinal cord lateral column morphology ( J:191785 )

• minor degeneration

abnormal nervous system electrophysiology ( J:191785 )

• no differences from controls recorded at the thoracic T12 segment after stimulation of motor cortex