Primary Identifier | MGI:95707 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 14599 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables growth hormone receptor binding activity. Acts upstream of or within cellular response to insulin stimulus; regulation of growth; and response to food. Located in several cellular components, including extracellular space; secretory granule; and trans-Golgi network. Is expressed in several structures, including early conceptus; gut; hemolymphoid system; male reproductive system; and pituitary gland. Used to study isolated growth hormone deficiency type II. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); autoimmune disease of endocrine system (multiple); diabetic retinopathy; isolated growth hormone deficiency (multiple); and progeria. Orthologous to several human genes including GH1 (growth hormone 1). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit dwarfism, an increased percentage of body white and brown fat, elevated plasma ghrelin levels, pituitary hypoplasia, small liver, delayed sexual maturation, and reduced fertility. Heterozygotes display a less pronounced phenotype. [provided by MGI curators] |