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Symbol Name ID |
Ap4e1
adaptor-related protein complex AP-4, epsilon 1 MGI:1336993 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Drooling |
Spasticity |
Spastic paraplegia |
Spastic tetraplegia |
Ventriculomegaly |
Cerebral cortical atrophy |
Cerebellar atrophy |
Babinski sign |
Stuttering |
Excessive shyness |
Intellectual disability, severe |
Hyperreflexia |
Inability to walk |
Global developmental delay |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with AP4E1 | |||||||||||||||||
| hereditary spastic paraplegia 51 | |||||||||||||||||
| stuttering |
| Mouse Phenotypes | enlarged lateral ventricles |
decreased corpus callosum size |
decreased prepulse inhibition |
increased prepulse inhibition |
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| Availability | Mouse Genotype | ||||
| Ap4e1tm1a(KOMP)Wtsi/Ap4e1tm1a(KOMP)Wtsi | |||||
| Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi | |||||
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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