| Primary Identifier | MGI:1346833 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 26423 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and chromatin binding activity. Involved in negative regulation of female gonad development and positive regulation of male gonad development. Acts upstream of or within several processes, including adrenal gland development; gonad development; and maintenance of protein location in nucleus. Located in nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system; and respiratory system. Used to study hypogonadotropic hypogonadism. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. Homozygosity for a critical point mutation results in absence of adrenal glands, sex reversal in males and early postnatal lethality. [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
