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Symbol
Name
ID
Gm2a
GM2 ganglioside activator protein
MGI:95762
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Spastic tetraparesis
Cerebral atrophy
Neurodegeneration
Exaggerated startle response
Chorea
Paralysis
Abnormal pyramidal sign
Loss of speech
Apathy
Hyperacusis
Dementia
Hyperreflexia
Primitive reflex
Dystonia
Global developmental delay
Seizure
Myoclonic seizure
Disease(s) Associated with GM2A
GM2 gangliosidosis, AB variant

Mouse Phenotypes
abnormal brain morphology
abnormal hypothalamus morphology
abnormal limbic system morphology
abnormal amygdala morphology
abnormal entorhinal cortex morphology
abnormal cerebral cortex pyramidal cell morphology
abnormal olfactory cortex morphology
abnormal cerebellar cortex morphology
abnormal Purkinje cell morphology
abnormal cerebellar granule layer morphology
abnormal cerebellar granule cell morphology
abnormal cerebellar molecular layer
Availability Mouse Genotype
Gm2atm1Rlp/Gm2atm1Rlp

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
04/23/2024
MGI 6.23
The Jackson Laboratory