| Primary Identifier | MGI:106679 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 22772 |
| 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 chromatin DNA binding activity. Involved in several processes, including nervous system development; regulation of DNA-templated transcription; and visual perception. Acts upstream of or within several processes, including nervous system development; neural crest cell differentiation; and nodal signaling pathway. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; embryo mesenchyme; and eye. Used to study holoprosencephaly 5 and schizophrenia. Human ortholog(s) of this gene implicated in holoprosencephaly and holoprosencephaly 5. Orthologous to human ZIC2 (Zic family member 2). PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. A critical mutation in the last zinc finger domain results in multiple isomerism-related and other malformations in the embryonic brain, eyes, heart, lungs, cardiopulmonary vasculature, and digestive organs. [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
