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Symbol
Name
ID
Rab3gap2
RAB3 GTPase activating protein subunit 2
MGI:1916043
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Secondary microcephaly
Undetectable visual evoked potentials
Spastic diplegia
Ventriculomegaly
Enlarged sylvian cistern
Polymicrogyria
Cerebral cortical atrophy
Hypoplasia of the corpus callosum
Periventricular white matter hyperintensities
Global brain atrophy
Arachnoid cyst
Clonus
Absent speech
Delayed speech and language development
Intellectual disability
Intellectual disability, progressive
Intellectual disability, severe
Reduced tendon reflexes
Global developmental delay
Severe global developmental delay
Delayed ability to sit
Delayed ability to walk
Disease(s) Associated with RAB3GAP2
Martsolf syndrome
Warburg micro syndrome 2

Mouse Phenotypes
abnormal optic disk morphology
Availability Mouse Genotype
Rab3gap2tm1b(KOMP)Wtsi/Rab3gap2tm1b(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
05/21/2024
MGI 6.23
The Jackson Laboratory