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Symbol
Name
ID

Tor1a
torsin family 1, member A (torsin A)
MGI:1353568

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Facial palsy	Torticollis	Elbow flexion contracture	Flexion contracture	Arthrogryposis multiplex congenita	Camptodactyly	Multiple joint contractures	Hypertonia	Hypotonia	Generalized hypotonia
Disease(s) Associated with TOR1A	Facial palsy	Torticollis	Elbow flexion contracture	Flexion contracture	Arthrogryposis multiplex congenita	Camptodactyly	Multiple joint contractures	Hypertonia	Hypotonia	Generalized hypotonia
arthrogryposis multiplex congenita-5
torsion dystonia 1

Mouse Phenotypes		dystonia
Availability	Mouse Genotype	dystonia
	Tor1a^tm1Calak/Tor1a^tm1Calak
	En1^tm2(cre)Wrst/En1⁺ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd (conditional)
	En1^tm2(cre)Wrst/En1⁺ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd (conditional)
	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 (conditional)
	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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