Phenotypes Associated with This Genotype

Genotype
MGI:5318527

• Allelic Composition: Tg(Tuba1-MAPT)14Vle/0
• Genetic Background: involves: C57BL/6 * SJL

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

behavior/neurological

dystonia ( J:78400 )

• dystonic movement of the hindlimbs or both hindlimbs and forelimbs when lifted by tails

jerky movement ( J:78400 )

• at 24 months of age, 72% of mutants exhibit limb twitch compared to 18% of wild-type mice

weakness ( J:78400 )

• mutants develop progressive motor weakness

• impaired ability to stand on a slanted surface

muscle

dystonia ( J:78400 )

• dystonic movement of the hindlimbs or both hindlimbs and forelimbs when lifted by tails

nervous system

tau protein deposits ( J:78400 )

• mutants develop tau inclusions in both neurons and glia of spinal cord and ventral roots

• accumulating tau proteins in oligodendrocytes progressively form aggregates that resemble coiled bodies in human tauopathies

• tau proteins are located in the cytoplasm of Schwann cells

• tau accumulation is also seen in the molecular layer of the cerebellum, mostly in vertically oriented redial glial fibers

• progressive accumulation of tau in astrocytes and oligodendrocytes is associated with degeneration of these cells

abnormal astrocyte morphology ( J:78400 )

• mutants develop tau-positive astrocytic plaque-like lesions at 12 months of age, with a peak in number at 15 months and a decline thereafter, indicating a loss of astrocytes with age

decreased oligodendrocyte number ( J:78400 )

• reduction in oligodendrocytes in the lumber spinal cord at 6 months of age, indicating degeneration of oligodendrocytes

abnormal Schwann cell morphology ( J:78400 )

• degeneration of Schwann cells

abnormal myelin sheath morphology ( J:78400 )

• 25 month old mutants exhibit myelin disruption in the spinal cord and ventral roots such as thinning of myelin sheaths in the ventral roots, disorganization of the compact myelin in the spinal cord, detachment of myelin layers in old mutants, and structural disorganization of myelin

decreased neuron number ( J:78400 )

• mutants exhibit an age-related reduction in neurons in the anterior horn of the lumbar spinal cord

axon degeneration ( J:78400 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
frontotemporal dementia		DOID:9255	OMIM:600274	J:78400