Primary Identifier | MGI:3648807 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 622408 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including multi-ciliated epithelial cell differentiation; organelle assembly; and regulation of nucleobase-containing compound metabolic process. Predicted to be located in nuclear body. Predicted to be active in nucleus. Is expressed in brain; female reproductive system; liver; and respiratory system. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 42. Orthologous to human MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein). PHENOTYPE: Homozygotes for a null allele show postnatal death, hydrocephaly, small size, sterility, and loss of multiple ciliated cells (MCCs) in the trachea, oviducts and brain ependyma. Although MCC precursors are specified, they fail to produce multiple basal bodies and mature into single ciliated cells. [provided by MGI curators] |