Phenotypes associated with this allele

• Allele Symbol: Tg(TARDBP*G348C)#Jpj
• Allele Name: transgene insertion, Jean-Pierre Julien
• Allele ID: MGI:5476825
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(TARDBP*G348C)#Jpj/0	involves: C3H * C57BL/6	MGI:5476838

Genotype
MGI:5476838

tg1

• Allelic Composition: Tg(TARDBP*G348C)#Jpj/0
• Genetic Background: involves: C3H * C57BL/6

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

behavior/neurological

impaired passive avoidance behavior ( J:195184 )

• in the passive avoidance test, mutants exhibit severe cognitive impairments after 7 months of age and especially in the 11th and 13th months

abnormal spatial learning ( J:195184 )

• mice exhibit a learning impairment in the Barnes maze test at 10 months of age, showing a reduction in the time spent in the target quadrant and increased primary errors

• in the probe trial, mutants show a reduction in the time spent in the target quadrant and an increase in the total number of errors

impaired coordination ( J:195184 )

• mice show reduction in latency in the accelerating rotarod tests starting at around 42 weeks of age, indicating age-related motor deficits

nervous system

microgliosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is more pronounced than in mice expressing the wild-type or the A315T transgene

astrocytosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is more pronounced than in mice expressing the wild-type or the A315T transgene

abnormal motor neuron morphology ( J:195184 )

• 10% increase (an increase of 100 axons) in the number of motor axons with 1-3 um caliber and a 12% decrease (a decrease of 120 axons) in the number of motor axons with 6-9 um caliber in 10 month old mutants

abnormal neuromuscular synapse morphology ( J:195184 )

• 10% of analyzed neuromuscular junctions are denervated in 10 month old mutants, while over 20% are partially denervated

neuron degeneration ( J:195184 )

• many caspase-3 positive neurons are seen in the spinal cord at 10 months of age, indicating neuronal damage

neuronal cytoplasmic inclusions ( J:195184 )

• mice develop ubiquitinated and TARDBP+ inclusions in the spinal cord by 10 months of age

• abnormal accumulation of neurofilament and peripherin proteins in inclusions in large motor neurons and the brain at 10 months of age, indicating degeneration of motor neurons

immune system

microgliosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is more pronounced than in mice expressing the wild-type or the A315T transgene

abnormal cytokine level ( J:195184 )

• levels of various cytokine and chemokine mRNAs are upregulated indicating neuroinflammation

hematopoietic system

microgliosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is more pronounced than in mice expressing the wild-type or the A315T transgene

homeostasis/metabolism

abnormal cytokine level ( J:195184 )

• levels of various cytokine and chemokine mRNAs are upregulated indicating neuroinflammation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 10		DOID:0060201	OMIM:612069	J:195184
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions		DOID:0060672	OMIM:607485	J:195184