| Primary Identifier | MGI:106676 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 22773 |
| 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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription coactivator activity. Involved in several processes, including axis specification; nervous system development; and regulation of DNA-templated transcription. Acts upstream of or within anterior/posterior pattern specification and heart looping. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; egg cylinder; embryo mesenchyme; genitourinary system; and visual system. Used to study Goldenhar syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in X-linked VACTERL association; situs inversus; and visceral heterotaxy. Orthologous to human ZIC3 (Zic family member 3). PHENOTYPE: Mutant mice exhibit variable penetrance of phenotypes ranging from bent tail/skeletal abnormalities to severe defects resulting in death at embryonic day 18.5. Other mutants exhibit impaired spontaneous locomotor activity, reduction of muscle tone and impairments of vestibuloocular and optokinetic eye movements. [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
