|
Symbol Name ID |
Eml1
echinoderm microtubule associated protein like 1 MGI:1915769 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Spasticity |
Lateral ventricle dilatation |
Hydrocephalus |
Ventriculomegaly |
Subcortical band heterotopia |
Polymicrogyria |
Agenesis of corpus callosum |
Hypoplastic hippocampus |
Gray matter heterotopia |
Atypical behavior |
Intellectual disability, severe |
Sleep abnormality |
Global developmental delay |
Profound global developmental delay |
Seizure |
| Disease(s) Associated with EML1 | |||||||||||||||
| subcortical band heterotopia |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
myoclonus |
increased neuron apoptosis |
abnormal radial glial cell morphology |
abnormal neuronal precursor proliferation |
abnormal brain morphology |
abnormal brain development |
abnormal cortical intermediate zone morphology |
abnormal cortical plate morphology |
abnormal cortical ventricular zone morphology |
hydrocephaly |
obstructive hydrocephaly |
enlarged brain ventricles |
enlarged lateral ventricles |
small lateral ventricles |
dilated lateral ventricle |
absent corpus callosum |
decreased anterior commissure size |
decreased cingulate cortex size |
abnormal hippocampus CA3 region morphology |
abnormal hippocampus pyramidal cell layer |
abnormal dorsal subiculum morphology |
abnormal cerebral cortex morphology |
thickened cerebral cortex |
thin cerebral cortex |
brain atrophy |
abnormal Muller cell morphology |
abnormal embryonic/fetal subventricular zone morphology |
abnormal retina horizontal cell morphology |
abnormal photoreceptor outer segment disc membrane morphology |
ectopic neuron |
ectopic cortical neuron |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||
| Eml1heco/Eml1heco | * | ||||||||||||||||||||||||||||||||||
| Eml1tm1.2Ics/Eml1tm1.2Ics | |||||||||||||||||||||||||||||||||||
| Eml1tvrm360/Eml1tvrm360 | |||||||||||||||||||||||||||||||||||
| Eml1tm1.2Ics/Eml1+ | |||||||||||||||||||||||||||||||||||
| Eml1heco/? | |||||||||||||||||||||||||||||||||||
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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