tor1a Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (147)

Interactants (141)

XB-GENEPAGE-943836

Gene Symbol: tor1a Gene Name: torsin family 1, member A (torsin A)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (18 sources): Abnormal posturing, Abnormality of movement, Abnormality of the musculature, Abnormality of the voice, Blepharospasm, Depression, Dysarthria, Gait disturbance, Generalized hypotonia, Hyperlordosis, Hypotonia, Kyphosis, Scoliosis, Spasticity, Torsion dystonia, Torticollis, Tremor, Writer's cramp [+]
Mouse (47 sources): abnormal CNS synapse formation, abnormal Purkinje cell dendrite morphology, abnormal Purkinje cell innervation, abnormal brain white matter morphology, abnormal cell nucleus morphology, abnormal cerebellum deep nucleus morphology, abnormal cerebellum vermis morphology, abnormal dorsal striatum morphology, abnormal eosinophil cell number, abnormal involuntary movement, abnormal locomotor behavior, abnormal nervous system tract morphology, abnormal neuron physiology, abnormal pons morphology, abnormal pontine nuclei morphology, abnormal red nucleus morphology, abnormal response to new environment, abnormal suckling behavior, absent gastric milk in neonates, absent red nucleus, behavior/neurological phenotype, circling, decreased body size, decreased dopamine level, decreased grip strength, decreased locomotor activity, decreased neuron number, decreased vocalization, delayed eyelid opening, ectopic Purkinje cell, hunched posture, impaired balance, increased freezing behavior, increased sensitivity to induced morbidity/mortality, limb grasping, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced long term depression, trunk curl, weakness [+]
View all ortholog results at Monarch