| Primary Identifier | MGI:87961 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 11603 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including chondroitin sulfate binding activity; heparan sulfate proteoglycan binding activity; and transmembrane transporter binding activity. Involved in several processes, including negative regulation of sodium ion export across plasma membrane; positive regulation of Rac protein signal transduction; and positive regulation of protein modification process. Acts upstream of or within several processes, including positive regulation of motor neuron apoptotic process; positive regulation of transcription by RNA polymerase II; and regulation of synaptic activity. Located in several cellular components, including cell surface; sarcolemma; and synaptic cleft. Is active in extracellular space and synapse. Is expressed in several structures, including epithelium; lower jaw; musculature; nervous system; and retina. Used to study congenital myasthenic syndrome 8. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 8. Orthologous to human AGRN (agrin). PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [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
