Symbol Name ID |
Dnm1
dynamin 1 MGI:107384 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Secondary microcephaly |
Appendicular spasticity |
Opisthotonus |
Difficulty walking |
Colpocephaly |
Ventriculomegaly |
Thin corpus callosum |
Agenesis of corpus callosum |
Reduced cerebral white matter volume |
Diffuse cerebral atrophy |
Brain atrophy |
Widened subarachnoid space |
Clonus |
Involuntary movements |
Myoclonus |
Hypsarrhythmia |
Absent speech |
Irritability |
Choking episodes |
Self-injurious behavior |
Intellectual disability |
Hyperreflexia |
Inability to walk |
Epileptic encephalopathy |
Developmental regression |
Global developmental delay |
Severe global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Atypical absence seizure |
Multifocal seizures |
Atonic seizure |
Clonic seizure |
Epileptic spasm |
Infantile spasms |
Myoclonic seizure |
Tonic seizure |
Atypical absence status epilepticus |
Disease(s) Associated with DNM1 | |||||||||||||||||||||||||||||||||||||||
developmental and epileptic encephalopathy 31A | |||||||||||||||||||||||||||||||||||||||
developmental and epileptic encephalopathy 31B |
Mouse Phenotypes | nervous system phenotype |
seizures |
abnormal seizure response to electrical stimulation |
abnormal kindling response |
convulsive seizures |
tonic seizures |
tonic-clonic seizures |
spina bifida |
abnormal Purkinje cell dendrite morphology |
abnormal neuron morphology |
abnormal synaptic vesicle morphology |
abnormal synaptic vesicle number |
abnormal brain wave pattern |
abnormal synaptic vesicle recycling |
abnormal CNS synaptic transmission |
abnormal inhibitory postsynaptic currents |
abnormal miniature excitatory postsynaptic currents |
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Availability | Mouse Genotype | |||||||||||||||||
Dnm1Ftfl/Dnm1Ftfl | ||||||||||||||||||
Dnm1Ftfl/Dnm1Ftfl Tg(Pvalb-EGFP)B20Zjh/0 |
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Dnm1tm1.1(KOMP)Vlcg/Dnm1tm1.1(KOMP)Vlcg | ||||||||||||||||||
Dnm1tm1.2Frk/Dnm1tm1.2Frk | * | |||||||||||||||||
Dnm1tm1Pdc/Dnm1tm1Pdc | ||||||||||||||||||
Dnm1tm2.2Frk/Dnm1tm2.2Frk | * | |||||||||||||||||
Dnm1Ftfl/Dnm1+ | ||||||||||||||||||
Dnm1Ftfl/Dnm1tm1.2Frk | ||||||||||||||||||
Dnm1Ftfl/Dnm1tm2.2Frk | ||||||||||||||||||
Dnm1tm1.1(KOMP)Vlcg/Dnm1+ |
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 04/16/2024 MGI 6.23 |
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