|
Symbol Name ID |
Cask
calcium/calmodulin dependent serine protein kinase MGI:1309489 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Prominent occiput |
Craniosynostosis |
Plagiocephaly |
Trigonocephaly |
Micrognathia |
Malar flattening |
Microcephaly |
Progressive microcephaly |
Macrocephaly |
Postnatal macrocephaly |
Relative macrocephaly |
Metopic synostosis |
Delayed closure of the anterior fontanelle |
Widely patent fontanelles and sutures |
Wide anterior fontanel |
Oval face |
Short chin |
Broad forehead |
High forehead |
Large forehead |
Prominent forehead |
Thick lower lip vermilion |
Long philtrum |
Smooth philtrum |
Cleft upper lip |
Thick vermilion border |
Cleft palate |
High palate |
Narrow palate |
Open mouth |
Wide mouth |
Fused teeth |
Dental crowding |
Diastema |
Drooling |
Choanal atresia |
Anteverted nares |
Broad nasal tip |
Depressed nasal bridge |
Prominent nasal bridge |
Wide nasal bridge |
Prominent nose |
Short nose |
Downslanted palpebral fissures |
Upslanted palpebral fissure |
Epicanthus |
| Disease(s) Associated with CASK | |||||||||||||||||||||||||||||||||||||||||||||||
| FG syndrome | |||||||||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disability Najm type |
| Mouse Phenotypes | palatal shelves fail to meet at midline |
cleft secondary palate |
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| Availability | Mouse Genotype | ||
| Casktm1Sud/Casktm1.1Sud Tg(Prm-cre)58Og/0 (conditional) |
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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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