Phenotypes Associated with This Genotype

Genotype
MGI:6405401

• Allelic Composition: Tardbp^tm2.1Neas/Tardbp^tm2.1Neas
• Genetic Background: B6(C3)-Tardbp^tm2.1Neas

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

nervous system

nervous system phenotype ( J:283769 )

N • no TDP-43 aggregation in ChAT+ neurons is seen in the lumbar spinal cord

microgliosis ( J:283769 )

• 2 year old mice show microgliosis in the lumbar spinal cord

astrocytosis ( J:283769 )

• 2 year old mice show astrocytosis in the lumbar spinal cord

abnormal motor neuron innervation pattern ( J:283769 )

• modest, but significant, tibialis anterior muscle denervation is seen at 1.5 years of age

• greater denervation of the tibialis anterior muscle is seen at around 2.5 years of age, with asymmetric innervation of the tibialis anterior muscle and mice with the most denervation also showing the highest degree of asymmetry

• less denervation is seen in the soleus muscle than tibialis anterior muscle and no significant denervation of the gastrocnemius muscle is seen

• motor axon withdrawal precedes motoneuron loss

motor neuron degeneration ( J:283769 )

• no motor neuron loss is seen in the L4-5 spinal cord except for one mouse that showed 25% L4-5 motoneuron loss; this mouse has the largest degree of denervation of tibialis anterior muscle

• motoneuron loss in the one mouse is restricted to large-diameter motoneurons, indicating selective loss of alpha-motoneurons

immune system

microgliosis ( J:283769 )

• 2 year old mice show microgliosis in the lumbar spinal cord

hematopoietic system

microgliosis ( J:283769 )

• 2 year old mice show microgliosis in the lumbar spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 10		DOID:0060201	OMIM:612069	J:283769