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Symbol
Name
ID
Ass1
argininosuccinate synthetase 1
MGI:88090
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Cerebral edema
Stroke
Ataxia
Irritability
Lethargy
Intellectual disability
Coma
Global developmental delay
Seizure
Disease(s) Associated with ASS1
classic citrullinemia

Mouse Phenotypes
abnormal cerebellar granule cell migration
abnormal cerebellum external granule cell layer morphology
decreased brain weight
abnormal Bergmann glial cell morphology
abnormal cerebellar granule layer morphology
Availability Mouse Genotype
Ass1bar/Ass1bar
Ass1fold/Ass1fold
Ass1bar/Ass1fold

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