Primary Identifier | MGI:1919757 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 72507 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including ciliary transition zone assembly; neural tube development; and protein localization to cilium. Located in axoneme; centriole; and ciliary basal body. Is expressed in embryo; future spinal cord; and olfactory epithelium. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in polycystic kidney disease 5. Orthologous to human DZIP1L (DAZ interacting zinc finger protein 1 like). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background. [provided by MGI curators] |