Primary Identifier | MGI:98968 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 22431 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and double-stranded DNA binding activity. Involved in several processes, including kidney development; regulation of DNA-templated transcription; and reproductive structure development. Acts upstream of or within several processes, including male gonad development; negative regulation of mesenchymal cell apoptotic process involved in metanephros development; and vasculogenesis. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; body cavity or lining; central nervous system; genitourinary system; and heart and pericardium. Used to study Denys-Drash syndrome and congenital diaphragmatic hernia. Human ortholog(s) of this gene implicated in several diseases, including Denys-Drash syndrome; Frasier syndrome; malignant mesothelioma; nephroblastoma (multiple); and nephrotic syndrome type 4. Orthologous to human WT1 (WT1 transcription factor). PHENOTYPE: Homozygous mutant mice fail to develop normal kidneys or gonads, and on some genetic backgrounds, a spleen. Heart, mesothelium and lung anomalies and variable lethality are observed. Females heterozygous for a point mutation are subfertile with small ovaries and impaired ovarian folliculogenesis. [provided by MGI curators] |