| Primary Identifier | MGI:88454 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 12826 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable platelet-derived growth factor binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within cellular response to amino acid stimulus; collagen-activated tyrosine kinase receptor signaling pathway; and neuromuscular junction development. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including alimentary system; brain; egg cylinder; genitourinary system; and sensory organ. Used to study Walker-Warburg syndrome; brain small vessel disease 1; kidney disease; and porencephaly. Human ortholog(s) of this gene implicated in brain small vessel disease 1; myocardial infarction; retinal arterial tortuosity; and uterine fibroid. Orthologous to human COL4A1 (collagen type IV alpha 1 chain). PHENOTYPE: Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults. [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
