Primary Identifier | MGI:103076 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 22337 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity and nuclear receptor activity. Involved in regulation of calcidiol 1-monooxygenase activity. Acts upstream of or within several processes, including intestinal absorption; mammary gland development; and positive regulation of apoptotic process involved in mammary gland involution. Predicted to be located in several cellular components, including T-tubule; chromatin; and nuclear lumen. Predicted to be part of RNA polymerase II transcription regulator complex and receptor complex. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; metanephros; nervous system; sensory organ; and skeleton. Used to study osteoporosis and rickets. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); liver disease (multiple); lung disease (multiple); and melanoma (multiple). Orthologous to human VDR (vitamin D receptor). PHENOTYPE: Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development. [provided by MGI curators] |