Symbol Name ID |
Rab3gap2
RAB3 GTPase activating protein subunit 2 MGI:1916043 |
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 |
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Availability | Mouse Genotype | |
Rab3gap2tm1b(KOMP)Wtsi/Rab3gap2tm1b(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 05/21/2024 MGI 6.23 |
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