| Primary Identifier | MGI:95482 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 14085 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables fumarylacetoacetase activity. Acts upstream of or within arginine catabolic process. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skeleton. Used to study tyrosinemia type I. Human ortholog(s) of this gene implicated in tyrosinemia type I. Orthologous to human FAH (fumarylacetoacetate hydrolase). PHENOTYPE: Homozygotes for targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression. Mice homozygous for a mutation of this gene exhibit inappropriate bouts of activity during the light period of the circadian cycle. [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
