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Symbol
Name
ID

Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
MGI:109482

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Flexion contracture	Hypertonia	Generalized hypotonia	Frequent falls	Muscle weakness	Myotonia
Disease(s) Associated with CACNA1A	Flexion contracture	Hypertonia	Generalized hypotonia	Frequent falls	Muscle weakness	Myotonia
developmental and epileptic encephalopathy 42
episodic ataxia type 2
spinocerebellar ataxia type 6

Mouse Phenotypes		dystonia	abnormal muscle electrophysiology	muscle spasm	muscle weakness
Availability	Mouse Genotype	dystonia	abnormal muscle electrophysiology	muscle spasm	muscle weakness
	Cacna1a^tg-rol/Cacna1a^tg-rol
	Cacna1a^tg/Cacna1a^tg
	Cacna1a^tm1Hssh/Cacna1a^tm1Hssh
	Cacna1a^{tm2.1(CACNA1A)Ttan}/Cacna1a^{tm2.1(CACNA1A)Ttan}
	Cacna1a^Wb/Cacna1a^Wb
	Cacna1a^tg-la/Cacna1a^Wb
	Cacna1a^tg/Cacna1a^tm2.1Maag Tg(Pcp2-cre)2Mpin/0 (conditional)
	Cacna1a^tg/Cacna1a^tm2.1Maag (conditional)
	Cacna1a^tm2.1Maag/Cacna1a^tm2.2Maag Tg(EIIa-cre)C5379Lmgd/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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