Primary Identifier | MGI:107928 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 19378 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 3-chloroallyl aldehyde dehydrogenase activity and retinal dehydrogenase activity. Involved in cellular response to retinoic acid. Acts upstream of or within several processes, including circulatory system development; nervous system development; and retinoid metabolic process. Predicted to be located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study DiGeorge syndrome. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human ALDH1A2 (aldehyde dehydrogenase 1 family member A2). PHENOTYPE: Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. Mice lacking both Aldh1a1 and Aldh1a2 exhibit azoospermia. [provided by MGI curators] |