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Symbol Name ID |
Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit MGI:103013 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Optic nerve hypoplasia |
Lower limb spasticity |
Intention tremor |
Delayed speech and language development |
Autism |
Attention deficit hyperactivity disorder |
Intellectual disability |
Central sleep apnea |
Obstructive sleep apnea |
Postural instability |
Global developmental delay |
Motor delay |
Delayed gross motor development |
Seizure |
Focal-onset seizure |
Myoclonic seizure |
Tonic seizure |
| Disease(s) Associated with CACNA1C | ||||||||||||||||||
| long QT syndrome 8 | ||||||||||||||||||
| neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | ||||||||||||||||||
| Timothy syndrome |
| Mouse Phenotypes | abnormal brain morphology |
enlarged lateral ventricles |
abnormal nervous system physiology |
abnormal neuron physiology |
abnormal CNS synaptic transmission |
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| Availability | Mouse Genotype | |||||
| Cacna1ctm1Itl/Cacna1ctm1Itl | ||||||
| Cacna1ctm1Jst/Cacna1ctm1Jst | ||||||
| Cacna1ctm2Itl/Cacna1c+ | ||||||
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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last database update 05/14/2024 MGI 6.23 |
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