Primary Identifier | MGI:1913996 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 213575 |
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. Acts upstream of or within cilium assembly and determination of left/right symmetry. Located in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including gut; heart; lung; metanephros; and node. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1). PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators] |