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Symbol
Name
ID

Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
MGI:88294

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Abnormality of masseter muscle	High palate
Disease(s) Associated with CACNA1S	Abnormality of masseter muscle	High palate
congenital myopathy 18
malignant hyperthermia

Mouse Phenotypes

enlarged interparietal bone

enlarged occipital bone

abnormal mandible morphology

small mandibular condyloid process

small mandibular coronoid process

short mandible

micrognathia

abnormal facial morphology

cleft secondary palate

abnormal tongue morphology

abnormal tongue muscle morphology

decreased tongue size

shortened head

Availability

Mouse Genotype

Cacna1s^mdg/Cacna1s^mdg

Cacna1s^{tm1.1(KOMP)Vlcg}/Cacna1s^{tm1.1(KOMP)Vlcg}

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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