Primary Identifier | MGI:98365 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20675 |
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. Involved in several processes, including Sertoli cell development; diencephalon development; and face development. Acts upstream of or within animal organ morphogenesis; forebrain development; and spermatid differentiation. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; branchial arch; early conceptus; embryo ectoderm; and gonad. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in X-linked panhypopituitarism. Orthologous to human SOX3 (SRY-box transcription factor 3). PHENOTYPE: Sex determination is normal in both homozygous mutant female and hemizygous mutant male mice, however, gonadal and developmental defects are observed in both sexes. [provided by MGI curators] |