Phenotypes Associated with This Genotype

Genotype
MGI:5759931

• Allelic Composition: Tor1a^tm1Wtd/Tor1a⁺
• Genetic Background: B6;129-Tor1a^tm1Wtd/J

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

nervous system

abnormal Purkinje cell innervation ( J:225496 )

• Purkinje cells receive more excitatory climbing fiber inputs at P14, but not at P60, suggesting a delay in the regression from multiple-to mono-innervation of climbing fibers from their Purkinje cells or increased innervation from a single climbing fiber

abnormal CNS synapse formation ( J:225496 )

• GABAergic synapse formation is compromised during the second postnatal week, with mice showing a reduction in the percentage of contacts formed by vesicular GABA transporter terminals at P14 but not at P60

• parallel fiber synapse formation is delayed, with mice showing a decrease in synaptic contacts between parallel fibers and Purkinje cell spines in the molecular layer at P14, however this recovers in adult age, leading to an increase of parallel fiber synaptic contacts

• parallel fiber synaptogenesis is impaired in a co-culture, with granule cells from mutant mice being less prone to form synaptic contacts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:225496