| Primary Identifier | MGI:97486 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 18504 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables C2H2 zinc finger domain binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including kidney development; negative regulation of apoptotic process involved in development; and nervous system development. Acts upstream of or within several processes, including kidney development; mesenchymal to epithelial transition; and ureter morphogenesis. Located in nucleus. Part of protein-DNA complex. Is expressed in several structures, including central nervous system; embryo ectoderm; embryo mesenchyme; genitourinary system; and sensory organ. Used to study renal coloboma syndrome. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7; renal Wilms' tumor; and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2). PHENOTYPE: Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. [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
