Phenotypes Associated with This Genotype

Genotype
MGI:5476847

• Allelic Composition: Tg(TARDBP)#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 less pronounced than in mice expressing the transgene with the G348C mutation

astrocytosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is less pronounced than in mice expressing the transgene with the G348C mutation

abnormal motor neuron morphology ( J:195184 )

• 5% increase (an increase of 50 axons) in the number of motor axons with 1-3 um caliber and a 6% decrease (a decrease of 60 axons) in the number of motor axons with 6-9 um caliber in 10 month old mutants

abnormal neuromuscular synapse morphology ( J:195184 )

• 5% of analyzed neuromuscular junctions are denervated in 10 month old mutants, while over 20% are partially denervated

hematopoietic system

microgliosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is less pronounced than in mice expressing the transgene with the G348C mutation

immune system

microgliosis ( J:195184 )

• age dependent microgliosis and astrogliosis in the brain and spinal cord; mircrogliosis and astrogliosis is less pronounced than in mice expressing the transgene with the G348C mutation

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