| Primary Identifier | MGI:95296 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 13654 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and SUMO ligase activity. Involved in several processes, including nervous system development; protein export from nucleus; and regulation of nervous system development. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including nervous system development; regulation of ossification; and rhythmic behavior. Located in cytoplasm and nucleus. Is expressed in several structures, including genitourinary system; head mesenchyme derived from neural crest; nervous system; neural ectoderm; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth disease type 4E; and motor peripheral neuropathy. Orthologous to human EGR2 (early growth response 2). PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [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
