| Primary Identifier | MGI:1335082 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 16348 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calmodulin binding activity. Acts upstream of or within several processes, including left/right pattern formation; protein localization to ciliary inversin compartment; and protein phosphorylation. Located in ciliary base and ciliary inversin compartment. Is expressed in several structures, including adrenal gland; brain; gut gland; hemolymphoid system; and skeletal musculature. Used to study nephronophthisis 2 and tetralogy of Fallot. Human ortholog(s) of this gene implicated in hypertension and nephronophthisis 2. Orthologous to human INVS (inversin). PHENOTYPE: Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life. [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
