Primary Identifier | MGI:96435 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 16004 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables D-mannose binding activity and insulin-like growth factor binding activity. Predicted to be involved in several processes, including liver development; positive regulation by host of viral process; and response to retinoic acid. Located in membrane and nuclear envelope lumen. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; early conceptus; and genitourinary system. Human ortholog(s) of this gene implicated in diabetes mellitus (multiple); hepatocellular carcinoma; in situ carcinoma (multiple); and nephroblastoma. Orthologous to human IGF2R (insulin like growth factor 2 receptor). PHENOTYPE: Mutants inheriting maternally a targeted disruption of this gene exhibit elevated serum and tissue IGF-II levels, overgrowth, organomegaly, kinky tail, polydactyly, heart defects, edema, dyspnea, imperforate vagina, reduced fertility and perinatal death.Survival is influenced by genetic background. [provided by MGI curators] |