| Primary Identifier | MGI:2684864 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 237823 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable phosphoribosylformylglycinamidine synthase activity. Acts upstream of or within anterior head development. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; integumental system; and liver. Orthologous to human PFAS (phosphoribosylformylglycinamidine synthase). PHENOTYPE: Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. [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
