Primary Identifier | MGI:96433 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 16001 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables insulin-like growth factor binding activity and insulin-like growth factor receptor activity. Involved in several processes, including adrenal gland development; insulin-like growth factor receptor signaling pathway; and positive regulation of metabolic process. Acts upstream of or within several processes, including exocrine pancreas development; peptidyl-tyrosine autophosphorylation; and regulation of intracellular signal transduction. Located in T-tubule. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and lung. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; dementia (multiple); kidney cancer (multiple); liver disease (multiple); and neurodegenerative disease (multiple). Orthologous to human IGF1R (insulin like growth factor 1 receptor). PHENOTYPE: Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. [provided by MGI curators] |