Primary Identifier | MGI:107736 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 110350 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including central nervous system development; cilium organization; and regionalization. Located in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including brain ventricular layer; cerebral cortex; lung; olfactory epithelium; and secondary heart field. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). PHENOTYPE: Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed. [provided by MGI curators] |