| Primary Identifier | MGI:1339708 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18012 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and chromatin binding activity. Involved in several processes, including nervous system development; regulation of DNA-templated transcription; and regulation of apoptotic process. Acts upstream of or within several processes, including enteroendocrine cell differentiation; negative regulation of receptor signaling pathway via JAK-STAT; and signal transduction involved in regulation of gene expression. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; neurogenic placode; and sensory organ. Used to study type 1 diabetes mellitus 7. Human ortholog(s) of this gene implicated in glucose intolerance; hyperglycemia; maturity-onset diabetes of the young type 6; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human NEUROD1 (neuronal differentiation 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit neonatal diabetes, pancreatic enteroendocrine cell deficits, impaired hearing and balance, retinal degeneration, and seizures. Survival past birth is dependent on 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
