Primary Identifier | MGI:98505 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 21410 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding activity; and promoter-specific chromatin binding activity. Acts upstream of or within several processes, including negative regulation of mesenchymal cell apoptotic process; regulation of transcription by RNA polymerase II; and tube morphogenesis. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and sensory organ. Human ortholog(s) of this gene implicated in kidney disease; maturity-onset diabetes of the young type 5; pancreas disease; renal cell carcinoma; and type 2 diabetes mellitus. Orthologous to human HNF1B (HNF1 homeobox B). PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. Mice heterozygous for a splice mutation suffer from hyperglycemia, pancreas inflammation and other pancreatic phenotypes. [provided by MGI curators] |