Primary Identifier | MGI:2156538 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 171395 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium channel activity. Involved in detection of nodal flow and left/right axis specification. Acts upstream of or within determination of left/right symmetry and heart development. Located in cilium. Is expressed in cochlea; node; and notochord. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting). PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators] |