| Primary Identifier | MGI:99912 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 16773 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to be an extracellular matrix structural constituent. Acts upstream of or within axon guidance and positive regulation of cholinergic synaptic transmission. Located in basement membrane and sarcolemma. Is active in neuromuscular junction and synaptic cleft. Is expressed in several structures, including alimentary system; extracellular matrix; metanephros; musculature; and nervous system. Used to study congenital merosin-deficient muscular dystrophy 1A. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy; congenital merosin-deficient muscular dystrophy 1A; muscular dystrophy; and myopia. Orthologous to human LAMA2 (laminin subunit alpha 2). PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life. [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
