Primary Identifier | MGI:95525 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 14186 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable fibroblast growth factor binding activity; fibroblast growth factor receptor activity; and heparin binding activity. Involved in several processes, including cholesterol homeostasis; phosphate ion homeostasis; and regulation of bile acid biosynthetic process. Acts upstream of or within several processes, including alveolar secondary septum development; negative regulation of fibroblast growth factor production; and positive regulation of parathyroid hormone secretion. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and transport vesicle. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Predicted to colocalize with cell-cell junction. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and sensory organ. Human ortholog(s) of this gene implicated in carcinoma (multiple); liver cirrhosis; prostate cancer; and stomach cancer. Orthologous to human FGFR4 (fibroblast growth factor receptor 4). PHENOTYPE: Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfismand defective respiratory alveogenesis. [provided by MGI curators] |