| Primary Identifier | MGI:96743 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 16777 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including glycosphingolipid binding activity; integrin binding activity; and receptor ligand activity. Involved in negative regulation of cell adhesion and positive regulation of skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within cell migration; embryo implantation; and neuron projection development. Located in basement membrane; nucleus; and perinuclear region of cytoplasm. Part of laminin-111 trimer and laminin-511 trimer. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; eye; and genitourinary system. Human ortholog(s) of this gene implicated in autistic disorder and leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus. Orthologous to human LAMB1 (laminin subunit beta 1). PHENOTYPE: Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. Mice heterozygous for a spontaneous mutation exhibit dystonis with impaired neuron firing. [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
