| Primary Identifier | MGI:97490 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18508 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including SMAD binding activity; enzyme binding activity; and nucleic acid binding activity. Involved in several processes, including nervous system development; pancreatic A cell development; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including camera-type eye development; nervous system development; and regulation of neuroblast proliferation. Located in chromatin and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; eye; and nose. Used to study Peters anomaly; aniridia; cataract; and juvenile glaucoma. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6). PHENOTYPE: Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects. [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
