| Primary Identifier | MGI:2655333 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230824 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in establishment of skin barrier; gene expression; and neural tube closure. Acts upstream of or within several processes, including cochlea morphogenesis; eyelid development in camera-type eye; and positive regulation of macromolecule biosynthetic process. Located in nucleus. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; heart; and hindlimb. Used to study Van der Woude syndrome. Orthologous to human GRHL3 (grainyhead like transcription factor 3). PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [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
