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Symbol Name ID |
Ap1s2
adaptor-related protein complex 1, sigma 2 subunit MGI:1889383 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Spasticity |
Spastic diplegia |
Cerebral calcification |
Basal ganglia calcification |
Aqueductal stenosis |
Hydrocephalus |
Ventriculomegaly |
Cerebral cortical atrophy |
Abnormal cerebellum morphology |
Cerebellar vermis hypoplasia |
Aplasia/Hypoplasia of the cerebellum |
Gait ataxia |
Choreoathetosis |
Absent speech |
Delayed speech and language development |
Poor speech |
Autistic behavior |
Aggressive behavior |
Stereotypical hand wringing |
Self-injurious behavior |
Intellectual disability, mild |
Intellectual disability, moderate |
Intellectual disability, profound |
Intellectual disability, severe |
Hyperreflexia |
Gait disturbance |
Global developmental delay |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with AP1S2 | |||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disability 5 |
| Mouse Phenotypes | abnormal synaptic vesicle morphology |
abnormal synaptic vesicle number |
abnormal synaptic vesicle clustering |
abnormal synaptic vesicle recycling |
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| Availability | Mouse Genotype | ||||
| Ap1s2tm1Pschu/Ap1s2tm1Pschu | |||||
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 05/14/2024 MGI 6.23 |
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