Primary Identifier | MGI:1922941 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 75691 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including determination of left/right symmetry; heart development; and in utero embryonic development. Located in ciliary inversin compartment. Is expressed in intrahepatic bile duct epithelium; liver; and liver parenchyma. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in nephronophthisis 16. Orthologous to human ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. Null mice show perinatal lethality, hetrotaxia, liver, bile duct, and cholangiocyte primary cilium abnormalities, and congential heart defects. [provided by MGI curators] |