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Symbol Name ID |
Ap3b2
adaptor-related protein complex 3, beta 2 subunit MGI:1100869 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Cerebellar atrophy |
Hypsarrhythmia |
Reduced eye contact |
Absent speech |
Sleep abnormality |
Hyporeflexia |
Dyskinesia |
Epileptic encephalopathy |
Global developmental delay |
Delayed ability to sit |
Delayed ability to walk |
Seizure |
Status epilepticus |
| Disease(s) Associated with AP3B2 | ||||||||||||||||
| developmental and epileptic encephalopathy 48 |
| Mouse Phenotypes | tonic-clonic seizures |
abnormal nervous system physiology |
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| Availability | Mouse Genotype | ||
| Ap3b2m1J/Ap3b2m1J | |||
| Ap3b2m2J/Ap3b2m2J | |||
| Ap3b2tm1Bur/Ap3b2tm1Bur | |||
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 05/28/2024 MGI 6.13 |
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