Primary Identifier | MGI:1352467 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 13982 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables chromatin binding activity; nuclear receptor activity; and sequence-specific DNA binding activity. Involved in cellular response to estradiol stimulus and stem cell differentiation. Acts upstream of or within several processes, including mammary gland development; regulation of defense response; and reproductive structure development. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study breast cancer. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); bone disease (multiple); breast cancer (multiple); type 2 diabetes mellitus; and vitiligo. Orthologous to human ESR1 (estrogen receptor 1). PHENOTYPE: Homozygotes for targeted null mutations have reduced skeletal growth and are infertile. Females exhibit hypoplastic uteri and nonovulatory ovaries, while males produce few sperm of low motility and fertilizing capacity. [provided by MGI curators] |