Primary Identifier | MGI:1918771 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 71521 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including lens development in camera-type eye; neuroblast migration; and roof of mouth development. Predicted to be located in chromatin; nucleoplasm; and plasma membrane. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study Cornelia de Lange syndrome. Orthologous to human PDS5A (PDS5 cohesin associated factor A). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development. [provided by MGI curators] |