Primary Identifier | MGI:104631 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 22288 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytoskeletal protein binding activity; integrin binding activity; and protein kinase binding activity. Predicted to be involved in positive regulation of cell-matrix adhesion and synaptic signaling. Predicted to act upstream of or within adult somatic muscle development. Located in neuromuscular junction and sarcolemma. Part of dystrophin-associated glycoprotein complex. Is expressed in several structures, including alimentary system; central nervous system; digit mesenchyme; genitourinary system; and nasal epithelium. Used to study Duchenne muscular dystrophy. Orthologous to human UTRN (utrophin). PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators] |