Symbol Name ID |
Ap4b1
adaptor-related protein complex AP-4, beta 1 MGI:1337130 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Drooling |
Spasticity |
Spastic paraplegia |
Ventriculomegaly |
Hypoplasia of the corpus callosum |
Abnormal periventricular white matter morphology |
Babinski sign |
Delayed speech and language development |
Dysarthria |
Excessive shyness |
Intellectual disability, severe |
Hyperreflexia |
Dystonia |
Inability to walk |
Waddling gait |
Global developmental delay |
Delayed ability to walk |
Seizure |
Disease(s) Associated with AP4B1 | |||||||||||||||||||
hereditary spastic paraplegia 47 |
Mouse Phenotypes | nervous system phenotype |
abnormal Purkinje cell morphology |
|
Availability | Mouse Genotype | ||
Ap4b1tm1Lex/Ap4b1tm1Lex | * |
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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