| Primary Identifier | MGI:88061 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11821 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables adenine binding activity and adenine phosphoribosyltransferase activity. Involved in AMP salvage; GMP salvage; and IMP salvage. Acts upstream of or within adenine metabolic process; grooming behavior; and purine ribonucleoside salvage. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and sensory organ. Used to study adenine phosphoribosyltransferase deficiency. Human ortholog(s) of this gene implicated in adenine phosphoribosyltransferase deficiency. Orthologous to human APRT (adenine phosphoribosyltransferase). PHENOTYPE: Most homozygous null mutants may die by 6 months of age with highly abnormal kidney morphology and kidney tubule obstructions depending on the genetic background. Mice have elevated urinary 2,8-hydroxyadenine and crystalline deposits in kidney. Severity varies by genetic background. [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
