Phenotypes associated with this allele

• Allele Symbol: Tg(Prnp-TARDBP*Q331K)103Dwc
• Allele Name: transgene insertion 103, Don W Cleveland
• Allele ID: MGI:5463119
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Prnp-TARDBP*Q331K)103Dwc/0	B6.Cg-Tg(Prnp-TARDBP*Q331K)103Dwc/J	MGI:6095193
tg2	Tg(Prnp-TARDBP*Q331K)103Dwc/?	involves: C57BL/6 * C3H	MGI:5463233

Genotype
MGI:6095193

tg1

• Allelic Composition: Tg(Prnp-TARDBP*Q331K)103Dwc/0
• Genetic Background: B6.Cg-Tg(Prnp-TARDBP*Q331K)103Dwc/J

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

cellular

oxidative stress ( J:242322 )

• induction of glutathione levels in response to sodium arsenite is impaired in primary astrocyte cultures and mice show an increase in transcripts of the antioxidant genes Hmox1 and Nqo1in the spinal cord, indicating elevated oxidative stress and impaired antioxidant response

nervous system

abnormal brain morphology ( J:242322 )

• loss of insoluble heterogeneous nuclear ribonucleoprotein K in the brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 10		DOID:0060201	OMIM:612069	J:242322

Genotype
MGI:5463233

tg2

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

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