| Primary Identifier | MGI:99915 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 16780 |
| 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. Acts upstream of or within brown fat cell differentiation. Located in basement membrane. Part of laminin-5 complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study junctional epidermolysis bullosa Herlitz type and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1A; junctional epidermolysis bullosa; and lung small cell carcinoma. Orthologous to human LAMB3 (laminin subunit beta 3). PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [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
