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

Mouse Phenotypes
nervous system phenotype
abnormal Purkinje cell morphology
Availability Mouse Genotype
Ap4b1tm1Lex/Ap4b1tm1Lex *

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
09/15/2020
MGI 6.15
The Jackson Laboratory