| Primary Identifier | MGI:106683 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 22771 |
| 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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including central nervous system development; positive regulation of protein import into nucleus; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within adult walking behavior and central nervous system development. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; cranium; embryo mesenchyme; metanephros; and visual system. Used to study Dandy-Walker syndrome and Joubert syndrome. Human ortholog(s) of this gene implicated in Dandy-Walker syndrome and craniosynostosis. Orthologous to human ZIC1 (Zic family member 1). PHENOTYPE: Homozygous mutants show cerebellar hypoplasia with a missing lobule of the anterior lobe. Newborn pups suckle poorly. 50% die within one day of birth and almost all die within 3 weeks; longer survivors show marked ataxia and exhibit tonic convulsions. [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
