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Symbol
Name
ID
Ube3b
ubiquitin protein ligase E3B
MGI:1891295
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
Ventriculomegaly
Hypoplasia of the corpus callosum
Absent speech
Intellectual disability
Intellectual disability, severe
Global developmental delay
Motor delay
Specific learning disability
Disease(s) Associated with UBE3B
Kaufman oculocerebrofacial syndrome

Mouse Phenotypes
nervous system phenotype
decreased brain size
enlarged brain ventricles
abnormal corpus callosum morphology
decreased dentate gyrus size
small hippocampus
abnormal primary somatosensory cortex morphology
abnormal dendrite morphology
decreased dendritic spine density
abnormal synapse morphology
Availability Mouse Genotype
Ube3bGt(RRJ142)Byg/Ube3bGt(RRJ142)Byg *
Ube3btm1a(EUCOMM)Hmgu/Ube3btm1a(EUCOMM)Hmgu

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
04/30/2024
MGI 6.23
The Jackson Laboratory