| Primary Identifier | MGI:104688 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12828 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable integrin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in cell surface receptor signaling pathway; glomerular basement membrane development; and negative regulation of angiogenesis. Acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including cardiovascular system; central nervous system; foregut; genitourinary system; and sensory organ. Used to study autosomal recessive Alport syndrome. Human ortholog(s) of this gene implicated in Alport syndrome; autosomal dominant Alport syndrome; autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A3 (collagen type IV alpha 3 chain). PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [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
