Primary Identifier | MGI:1919070 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 71820 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dynein heavy chain binding activity and dynein light chain binding activity. Involved in cilium assembly and intraciliary retrograde transport. Located in cytoskeleton and filopodium. Part of cytoplasmic dynein complex. Is expressed in cerebral cortex ventricular layer and cortical plate. Human ortholog(s) of this gene implicated in short-rib thoracic dysplasia 11 with or without polydactyly. Orthologous to human DYNC2I2 (dynein 2 intermediate chain 2). PHENOTYPE: Mice homozygous for a null allele exhibit midgestational lethality, embryonic growth retardation, open brain and neural tube, microphthalmia, wider limb paddles, polydactyly, defects in retrograde ciliary protein trafficking and Hedgehog signaling, and stumpy cilia. [provided by MGI curators] |