Primary Identifier | MGI:1933388 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 83675 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable RNA binding activity. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and heart and pericardium. Used to study autosomal dominant polycystic kidney disease; autosomal recessive polycystic kidney disease; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in diffuse cystic renal dysplasia. Orthologous to human BICC1 (BicC family RNA binding protein 1). PHENOTYPE: Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. [provided by MGI curators] |