| Primary Identifier | MGI:99909 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 16774 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including axon guidance; cell-cell adhesion; and hemidesmosome assembly. Located in basement membrane. Part of laminin-5 complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and skin. Used to study junctional epidermolysis bullosa and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa and lung small cell carcinoma. Orthologous to human LAMA3 (laminin subunit alpha 3). PHENOTYPE: Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive. [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
