Primary Identifier | MGI:2443878 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 218756 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium:bicarbonate symporter activity. Involved in locomotory exploration behavior; regulation of intracellular pH; and sensory perception of sound. Acts upstream of or within eye development; nervous system development; and visual perception. Located in apical plasma membrane; basolateral plasma membrane; and cytoplasm. Is expressed in brain; metanephros; pancreas; and spiral ligament. Used to study Usher syndrome type 2C. Orthologous to human SLC4A7 (solute carrier family 4 member 7). PHENOTYPE: Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension. [provided by MGI curators] |