Symbol Name ID |
Camk2a
calcium/calmodulin-dependent protein kinase II alpha MGI:88256 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Spasticity |
Thick corpus callosum |
Hyperintensity of cerebral white matter on MRI |
Involuntary movements |
EEG abnormality |
Interictal epileptiform activity |
Absent speech |
Delayed speech and language development |
Irritability |
Intellectual disability |
Intellectual disability, severe |
Sleep-wake cycle disturbance |
Inability to walk |
Unsteady gait |
Global developmental delay |
Delayed gross motor development |
Delayed ability to walk |
Bilateral tonic-clonic seizure |
Generalized non-motor (absence) seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Myoclonic seizure |
Disease(s) Associated with CAMK2A | ||||||||||||||||||||||
autosomal dominant intellectual developmental disorder 53 | ||||||||||||||||||||||
autosomal recessive intellectual developmental disorder 63 |
Mouse Phenotypes | nervous system phenotype |
seizures |
sporadic seizures |
increased cerebral infarct size |
abnormal dentate gyrus morphology |
abnormal hippocampus granule cell morphology |
abnormal neuron morphology |
abnormal dendrite morphology |
abnormal synapse morphology |
abnormal postsynaptic density morphology |
abnormal synaptic vesicle morphology |
abnormal synaptic vesicle number |
abnormal cutaneous/subcutaneous mechanoreceptor morphology |
abnormal neuron physiology |
abnormal synaptic plasticity |
impaired synaptic plasticity |
abnormal synaptic transmission |
abnormal CNS synaptic transmission |
abnormal excitatory postsynaptic currents |
abnormal excitatory postsynaptic potential |
abnormal long-term potentiation |
enhanced long-term potentiation |
reduced long-term potentiation |
abnormal long-term depression |
absent long-term depression |
reduced long-term depression |
decreased paired-pulse facilitation |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||
Camk2atm1.1Oyam/Camk2atm1.1Oyam | ||||||||||||||||||||||||||||
Camk2atm1Kub/Camk2atm1Kub | ||||||||||||||||||||||||||||
Camk2atm1Mllr/Camk2atm1Mllr | ||||||||||||||||||||||||||||
Camk2atm1Sva/Camk2atm1Sva | * | |||||||||||||||||||||||||||
Camk2atm2Sva/Camk2atm2Sva | * | |||||||||||||||||||||||||||
Camk2atm3Sva/Camk2atm3Sva | ||||||||||||||||||||||||||||
Camk2atm4Sva/Camk2atm4Sva | * | |||||||||||||||||||||||||||
Camk2atm5Sva/Camk2atm5Sva | * | |||||||||||||||||||||||||||
Camk2atm1.1Oyam/Camk2a+ | ||||||||||||||||||||||||||||
Camk2atm1Sva/Camk2a+ | ||||||||||||||||||||||||||||
Camk2atm5Sva/Camk2a+ | ||||||||||||||||||||||||||||
Camk2atm1.1Yelg/Camk2atm1.1Yelg Tg(CAG-cre/Esr1*)5Amc/0 (conditional) |
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Camk2atm1Vyb/Camk2atm1Vyb Tg(Grik4-cre)G32-4Stl/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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