| Primary Identifier | MGI:96173 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 15398 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; endothelial cell differentiation; and reproductive structure development. Located in nucleus. Is expressed in several structures, including central nervous system; genitourinary system; intestine; limb; and limb bud. Used to study hand-foot-genital syndrome. Human ortholog(s) of this gene implicated in Guttmacher syndrome and hand-foot-genital syndrome. Orthologous to human HOXA13 (homeobox A13). PHENOTYPE: Homozygotes for a targeted null mutation exhibit agenesis of both the urinary bladder and the caudal portion of the Mullerian ducts, premature stenosis of the umbilical arteries, loss of the most anterior digit of all feet, and death around mid-gestation. [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
