Primary Identifier | MGI:107430 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 14573 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable protein homodimerization activity and signaling receptor binding activity. Involved in several processes, including nephron epithelium morphogenesis; nervous system development; and positive regulation of morphogenesis of an epithelium. Acts upstream of or within several processes, including branching involved in ureteric bud morphogenesis; negative regulation of neuron apoptotic process; and organ induction. Predicted to be located in Golgi apparatus and extracellular region. Predicted to be part of receptor complex. Predicted to be active in extracellular space. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and immune system. Used to study Hirschsprung's disease. Human ortholog(s) of this gene implicated in Hirschsprung's disease; Parkinsonism; and epilepsy. Orthologous to human GDNF (glial cell derived neurotrophic factor). PHENOTYPE: Homozygous inactivation of this gene leads to lack of ureteric bud induction, bilateral renal agenesis, absence of enteric neurons, and neonatal death. Heterozygotes show renal phenotypes ranging from two small kidneys, often with abnormal shapes and cortical cysts, to unilateral renal agenesis. [provided by MGI curators] |