| Primary Identifier | MGI:101864 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 13138 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dystroglycan binding activity and laminin binding activity. Involved in several processes, including nervous system development; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane; and retrograde trans-synaptic signaling by trans-synaptic protein complex. Acts upstream of or within several processes, including basement membrane organization; commissural neuron axon guidance; and morphogenesis of an epithelium. Located in several cellular components, including external side of plasma membrane; node of Ranvier; and sarcolemma. Part of dystroglycan complex. Is active in several cellular components, including GABA-ergic synapse; cell surface; and photoreceptor ribbon synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; musculature; and sensory organ. Used to study autosomal recessive limb-girdle muscular dystrophy type 2P; dilated cardiomyopathy; and lissencephaly. Human ortholog(s) of this gene implicated in bronchopulmonary dysplasia; inclusion body myositis; and muscular dystrophy (multiple). Orthologous to human DAG1 (dystroglycan 1). PHENOTYPE: Homozygous null mutant embryos show gross abnormalities, particularly defective Reichert''''s membrane by 6.5 days, indicating a possible role for this gene product in basement membrane organization. Homozygosity for the p.C667F mutation is partially prenatal lethal, with born mice showing mild muscle phenotypes in old 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
