| Primary Identifier | MGI:1328312 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19213 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and chromatin binding activity. Involved in several processes, including neural retina development; regulation of neural retina development; and retinoic acid receptor signaling pathway. Acts upstream of or within several processes, including neuron fate commitment; positive regulation of transcription by RNA polymerase II; and retina morphogenesis in camera-type eye. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; epidermis; eye; foregut-midgut junction; and genitourinary system. Used to study pancreatic carcinoma. Human ortholog(s) of this gene implicated in pancreatic agenesis. Orthologous to human PTF1A (pancreas associated transcription factor 1a). PHENOTYPE: Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors. [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
