| Primary Identifier | MGI:97485 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18503 |
| 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 and sclerotome development. Acts upstream of or within several processes, including alpha-beta T cell differentiation; parathyroid gland development; and thymus development. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including branchial pouch; central nervous system; embryo mesenchyme; limb; and musculoskeletal system. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Orthologous to human PAX1 (paired box 1). PHENOTYPE: Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities. [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
