| Primary Identifier | MGI:96071 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 15209 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on canonical Wnt signaling pathway and gene expression. Acts upstream of or within several processes, including ERK1 and ERK2 cascade; cell surface receptor signaling pathway; and endocrine system development. Located in nucleus. Is expressed in several structures, including early conceptus; embryo ectoderm; embryo endoderm; genitourinary system; and thymus. Used to study hypopituitarism and septooptic dysplasia. Human ortholog(s) of this gene implicated in septooptic dysplasia. Orthologous to human HESX1 (HESX homeobox 1). PHENOTYPE: Homozygous mice show significant perinatal and postnatal lethality. Deficiency is manifested as brain, endocrine/exocrine and sensory organ developmental abnormalities in many embryos. Most mice surviving past birth display eye defects such as anophthalmia or microphthalmia. [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
