Primary Identifier | MGI:1914797 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 67547 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables zinc:bicarbonate symporter activity. Involved in several processes, including bicarbonate transport; intracellular monoatomic cation homeostasis; and monoatomic cation transmembrane transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Used to study left ventricular noncompaction. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIn. Orthologous to human SLC39A8 (solute carrier family 39 member 8). PHENOTYPE: Mice homozygous for a null allele die by E16.5 showing body edema, cardiac hypertrabeculation, thin compact myocardium, left ventricular noncompaction, increased cardiomyocyte proliferation, extracellular matrix accumulation, lower zinc level, and ventricular septal defects. Homozygosity for the p.A393T mutation leads to lower brain zinc levels and lower cortex dendritic spine density. [provided by MGI curators] |