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Symbol Name ID |
Epg5
ectopic P-granules 5 autophagy tethering factor MGI:1918673 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Dysphagia |
Hypoplasia of the pons |
Cerebral cortical atrophy |
Agenesis of corpus callosum |
Schizencephaly |
Cerebellar vermis hypoplasia |
Cerebellar hypoplasia |
Gray matter heterotopia |
EEG abnormality |
Intellectual disability |
Sleep abnormality |
Abnormal posturing |
Global developmental delay |
Motor delay |
Seizure |
| Disease(s) Associated with EPG5 | ||||||||||||||||
| Vici syndrome |
| Mouse Phenotypes | microgliosis |
abnormal hippocampus morphology |
abnormal hippocampus pyramidal cell layer |
decreased hippocampus pyramidal cell number |
decreased cerebral cortex pyramidal cell number |
astrocytosis |
abnormal innervation |
abnormal motor neuron morphology |
decreased motor neuron number |
decreased retina cone cell number |
abnormal photoreceptor inner segment morphology |
abnormal photoreceptor outer segment size |
retina rod cell degeneration |
retina photoreceptor degeneration |
neuronal cytoplasmic inclusions |
axonal spheroids |
decreased prepulse inhibition |
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| Availability | Mouse Genotype | |||||||||||||||||
| Epg5em1(IMPC)H/Epg5em1(IMPC)H | ||||||||||||||||||
| Epg5tm1Ygz/Epg5tm1Ygz | ||||||||||||||||||
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 04/23/2024 MGI 6.23 |
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