Primary Identifier | MGI:99604 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 14179 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable signaling receptor binding activity. Involved in outflow tract septum morphogenesis. Acts upstream of or within several processes, including brain development; circulatory system development; and embryonic morphogenesis. Predicted to be located in external side of plasma membrane. Predicted to be active in cytoplasm and extracellular space. Is expressed in several structures, including alimentary system; branchial arch; embryo ectoderm; embryo mesenchyme; and sensory organ. Used to study DiGeorge syndrome and tetralogy of Fallot. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 6 with or without anosmia and prostate carcinoma in situ. Orthologous to human FGF8 (fibroblast growth factor 8). PHENOTYPE: Homozygotes for targeted mutations exhibit cardiovascular defects (including abnormal left-right axis determination), impaired limb, thymic, and craniofacial development, and prenatal or early postnatal lethality. [provided by MGI curators] |