Primary Identifier | MGI:1889800 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 58916 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable alpha-actinin binding activity and cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in Z disc. Is expressed in several structures, including embryo mesenchyme; gut; lung; nervous system; and skin. Human ortholog(s) of this gene implicated in muscular dystrophy and myofibrillar myopathy 3. Orthologous to human MYOT (myotilin). PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology. [provided by MGI curators] |