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Symbol
Name
ID
Ap5z1
adaptor-related protein complex 5, zeta 1 subunit
MGI:1924908
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
Ap5z1tm1(KOMP)Wtsi/Ap5z1tm1(KOMP)Wtsi

Contributing Projects:
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
The Jackson Laboratory