Phenotypes Associated with This Genotype

Genotype
MGI:5532923

• Allelic Composition: Tor1a^tm2Wtd/Tor1a⁺
• Genetic Background: B6.129S1-Tor1a^tm2Wtd

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

Abnormal white matter microstructure in Tor1a^tm2Wtd/Tor1a⁺ mice

nervous system

abnormal brain white matter morphology ( J:171370 )

• abnormal white matter microstructure, showing a reduction in fractional anisotropy, a magnetic resonance diffusion tensor imaging index of axonal integrity and coherence

• white matter abnormalities are localized to the right superior cerebellar tract, the white matter subjacent to the right primary sensorimotor cortex, and the left caudate/putamen

abnormal dorsal striatum morphology ( J:171370 )

• fractional anisotropy reduction in the caudate/putamen

abnormal Purkinje cell dendrite morphology ( J:201962 )

• Purkinje cells show subtle abnormalities among the dendritic trees, showing fewer dendrites and shorter total dendritic lengths

• dendritic spines in Purkinje cells appear thinner and less complex, showing a 14% lower spine density in mutants and 5% lower spine density in females compared to males

ectopic Purkinje cell ( J:201962 )

• mutants exhibit 33% more heterotopic Purkinje cells in the cerebellum than controls

• heterotopic Purkinje cells are more frequent in the caudal cerebellum compared to the anterior cerebellum

abnormal cerebellum vermis morphology ( J:171370 )

• FDG microPET indicates a single brain region with abnormal glucose utilization localized to the superior cerebellar vermis, with increased local metabolic activity

enlarged cerebellum ( J:201962 )

• subtle enlargement of the cerebellum, with total volume of the cerebellum including granule cell layer, molecular cell layer, and deep cerebellar nuclei is slightly increased

• however, no structural abnormality of deep cerebellar nuclei neurons or Purkinje cell numbers

abnormal nervous system tract morphology ( J:171370 )

• reduction of tract numbers in cerebellothalamic (-49%), thalamocortical (-55%) and thalamostriatal (-86%) projection pathways

• fewer tracts, with fiber count reductions, in the rostral (-59%) and caudal (-86%) pontocerebellar pathways

behavior/neurological

behavior/neurological phenotype ( J:185289 )

♂N • males exhibit normal motor activity in the open field and habituate similar to wild-type males, normal rotarod behavior and similar performance to wild-type on the beam-walking test

♂N • males do not display altered responses to drug challenge

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:171370 , J:201962