Primary Identifier | MGI:1914411 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 67161 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable clathrin binding activity and sodium channel regulator activity. Predicted to be involved in cilium assembly and clustering of voltage-gated sodium channels. Located in centriole. Is expressed in cerebral cortex; embryo; eye; limb; and neural tube. Used to study autosomal recessive polycystic kidney disease and ciliopathy. Orthologous to human SCLT1 (sodium channel and clathrin linker 1). PHENOTYPE: Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age). [provided by MGI curators] |