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Symbol Name ID |
Ap5z1
adaptor-related protein complex 5, zeta 1 subunit MGI:1924908 |
| Darker colors indicate more annotations |
| Human Phenotypes | Lower limb spasticity |
Spastic paraparesis |
Spastic paraplegia |
Progressive spastic paraplegia |
Spastic gait |
Thin corpus callosum |
Hypoplasia of the corpus callosum |
Periventricular white matter hyperintensities |
Hyperintensity of cerebral white matter on MRI |
Ataxia |
Dysmetria |
Parkinsonism |
Myoclonus |
Cognitive impairment |
Mental deterioration |
Intellectual disability |
Intellectual disability, mild |
Hyperreflexia |
Broad-based gait |
Tip-toe gait |
Global developmental delay |
Peripheral neuropathy |
| Disease(s) Associated with AP5Z1 | ||||||||||||||||||||||
| hereditary spastic paraplegia 48 |
| Mouse Phenotypes | abnormal hippocampus pyramidal cell morphology |
abnormal Purkinje cell morphology |
abnormal Purkinje cell axon morphology |
abnormal cerebellar granule layer morphology |
astrocytosis |
abnormal corticospinal tract morphology |
axon degeneration |
axonal spheroids |
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| Availability | Mouse Genotype | ||||||||
| Ap5z1tm1(KOMP)Wtsi/Ap5z1tm1(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 05/07/2024 MGI 6.23 |
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