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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 | Frontal bossing |
Micrognathia |
Shallow orbits |
2-3 toe cutaneous syndactyly |
Syndactyly |
Cutaneous syndactyly |
3-4 finger cutaneous syndactyly |
Flexion contracture |
Camptodactyly |
| 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 caudal vertebrae morphology |
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| Availability | Mouse Genotype | |
| Cacna1cem1(IMPC)Mbp/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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