Phenotypes Associated with This Genotype

Genotype
MGI:3624527

• Allelic Composition: Tor1a^tm2Wtd/Tor1a⁺
• Genetic Background: involves: 129S1/Sv

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

cellular

abnormal cell nucleus morphology ( J:107596 )

• nuclear envelope is normal compared to homozygous Tor1a homozygous or compound mutants

nervous system

abnormal neuron physiology ( J:201535 )

• hippocampal neurons exhibit a prolonged cytoplasmic calcium concentration decay, indicating that neurons experience calcium overload

• treatment with glutamate-receptor antagonist results in the ablation of this prolonged decay

behavior/neurological

behavior/neurological phenotype ( J:185289 )

♂N • males have no apparent behavioral abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:201535