|
Symbol Name ID |
Cask
calcium/calmodulin dependent serine protein kinase MGI:1309489 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Progressive microcephaly |
Drooling |
Small pituitary gland |
Optic nerve hypoplasia |
Spasticity |
Hypoplasia of the pons |
Hypoplasia of the brainstem |
Dilated fourth ventricle |
Hydrocephalus |
Ventriculomegaly |
Pachygyria |
Simplified gyral pattern |
Cerebral cortical atrophy |
Aplasia/Hypoplasia of the corpus callosum |
Agenesis of corpus callosum |
Partial agenesis of the corpus callosum |
Abnormal cerebellum morphology |
Cerebellar hypoplasia |
Chiari type I malformation |
Gray matter heterotopia |
High pitched voice |
Absent speech |
Delayed speech and language development |
Happy demeanor |
Abnormal social behavior |
Compulsive behaviors |
Hyperactivity |
Attention deficit hyperactivity disorder |
Intellectual disability |
Intellectual disability, moderate |
Hyperreflexia |
Gait disturbance |
Broad-based gait |
Global developmental delay |
Severe global developmental delay |
Motor delay |
Delayed ability to sit |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with CASK | ||||||||||||||||||||||||||||||||||||||||
| FG syndrome | ||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disability Najm type |
| Mouse Phenotypes | nervous system phenotype |
increased neuron apoptosis |
abnormal neurotransmitter secretion |
|
| Availability | Mouse Genotype | |||
| Casktm1Sud/Casktm1.1Sud Tg(Prm-cre)58Og/0 (conditional) |
* | |||
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 04/30/2024 MGI 6.23 |
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