Phenotypes Associated with This Genotype

Genotype
MGI:5529794

• Allelic Composition: Tg(Thy1-MAPT*)1Avil/Tg(Thy1-MAPT*)1Avil
• Genetic Background: involves: C57BL/6 * CBA

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

nervous system

seizures ( J:201700 )

• 10-30% of mice show epileptic seizures at all ages analyzed

increased susceptibility to pharmacologically induced seizures ( J:201700 )

• mice show increased sensitivity to the chemoconvulsant agent pentylenetetrazol, showing reduced seizure latency, increased seizure length and increased lethality compared to controls

myoclonus ( J:201700 )

• 70% of mutants exhibit spontaneous myoclonus at 5.5 months of age

• mutants display myoclonic jerks and periods of immobility followed by a seizure

tonic-clonic seizures ( J:201700 )

• 10% of mutants exhibit spontaneous generalized tonic-clonic seizures (generalized low-frequency polyspike-wave discharges) at 14 months of age

nonconvulsive seizures ( J:201700 )

• mutants show nonconvulsive spontaneous seizures with EEG correlates corresponding to epileptic rhythmic, spindle-shaped discharges

tau protein deposits ( J:201700 )

• phosphorylated-tau aggregates are seen in the brain

gliosis ( J:201700 )

• reactive gliosis in the hippocampus

microgliosis ( J:201700 )

• activated microglia in the brain

astrocytosis ( J:201700 )

• reactive astrocytes in the brain

behavior/neurological

seizures ( J:201700 )

• 10-30% of mice show epileptic seizures at all ages analyzed

increased susceptibility to pharmacologically induced seizures ( J:201700 )

• mice show increased sensitivity to the chemoconvulsant agent pentylenetetrazol, showing reduced seizure latency, increased seizure length and increased lethality compared to controls

myoclonus ( J:201700 )

• 70% of mutants exhibit spontaneous myoclonus at 5.5 months of age

• mutants display myoclonic jerks and periods of immobility followed by a seizure

tonic-clonic seizures ( J:201700 )

• 10% of mutants exhibit spontaneous generalized tonic-clonic seizures (generalized low-frequency polyspike-wave discharges) at 14 months of age

nonconvulsive seizures ( J:201700 )

• mutants show nonconvulsive spontaneous seizures with EEG correlates corresponding to epileptic rhythmic, spindle-shaped discharges

hematopoietic system

microgliosis ( J:201700 )

• activated microglia in the brain

immune system

microgliosis ( J:201700 )

• activated microglia in the brain

muscle

myoclonus ( J:201700 )

• 70% of mutants exhibit spontaneous myoclonus at 5.5 months of age

• mutants display myoclonic jerks and periods of immobility followed by a seizure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
frontotemporal dementia		DOID:9255	OMIM:600274	J:201700