| Primary Identifier | MGI:109340 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 18741 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including cardiac neural crest cell migration involved in outflow tract morphogenesis; deltoid tuberosity development; and left/right pattern formation. Acts upstream of or within several processes, including circulatory system development; diencephalon development; and digestive tract morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and musculature. Used to study Axenfeld-Rieger syndrome type 1 and glaucoma. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). PHENOTYPE: Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death. [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
