| Primary Identifier | MGI:99916 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 16779 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables integrin binding activity. A structural constituent of synapse-associated extracellular matrix. Acts upstream of or within several processes, including metanephric glomerulus development; neurogenesis; and visual perception. Located in basement membrane and synapse. Part of laminin-3 complex. Is active in neuromuscular junction and synaptic cleft. Is expressed in several structures, including Reichert's membrane; alimentary system; brain; decidua; and submandibular gland primordium. Used to study Pierson syndrome and nephrosis. Human ortholog(s) of this gene implicated in Pierson syndrome; nephrotic syndrome type 5; and primary open angle glaucoma. Orthologous to human LAMB2 (laminin subunit beta 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit small size, severe proteinuria due to a defect in glomerular filtration, abnormalities of the retina and skeletal neuromuscular synapses, and lethality by 30 days of age. [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
