| Primary Identifier | MGI:1344313 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 21417 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and chromatin binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of neuron differentiation. Acts upstream of or within several processes, including embryonic organ morphogenesis; negative regulation of keratinocyte proliferation; and regulation of T cell differentiation in thymus. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study tropical spastic paraparesis. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 3. Orthologous to human ZEB1 (zinc finger E-box binding homeobox 1). PHENOTYPE: Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations result in eye anomalies and extensive skeletal abnormalities. Homozygotes generally die at birth due to respiratory failure. [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
