| Primary Identifier | MGI:88090 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 11898 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including argininosuccinate synthase activity; identical protein binding activity; and toxic substance binding activity. Involved in circadian rhythm. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; integumental system; metanephros; and sensory organ. Used to study citrullinemia. Human ortholog(s) of this gene implicated in citrullinemia; classic citrullinemia; hepatocellular carcinoma; and melanoma. Orthologous to human ASS1 (argininosuccinate synthase 1). PHENOTYPE: Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
