| Primary Identifier | MGI:2148742 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 114141 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable PDZ domain binding activity; identical protein binding activity; and paracellular tight junction channel activity. Involved in paracellular transport and renal absorption. Located in bicellular tight junction. Is expressed in metanephros and stomach. Used to study renal hypomagnesemia 3. Human ortholog(s) of this gene implicated in renal hypomagnesemia 3 and renal tubular transport disease. Orthologous to human CLDN16 (claudin 16). PHENOTYPE: Mice homozygous for a null allele display an age-dependent progressive phenotype that includes hypercalciuria and hypomagnesemia, significantly elevated serum parathyroid hormone and calcitriol (1,25(OH)2D3) levels, and a significantly lower urinary pH but no nephrocalcinosis or renal failure. [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
