| Primary Identifier | MGI:2138987 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 269356 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including active borate transmembrane transporter activity; monoatomic cation channel activity; and water transmembrane transporter activity. Involved in fluid transport; monoatomic ion homeostasis; and regulation of mesenchymal stem cell differentiation. Located in basolateral plasma membrane. Is expressed in metanephros and vomeronasal organ. Used to study congenital hereditary endothelial dystrophy of cornea. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; and corneal dystrophy-perceptive deafness syndrome. Orthologous to human SLC4A11 (solute carrier family 4 member 11). PHENOTYPE: Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urinehypoosmolarity and impaired hearing. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
