Primary Identifier | MGI:106039 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 13527 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable PDZ domain binding activity and phosphatase binding activity. Predicted to be involved in synaptic signaling. Located in synapse. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and sensory organ. Human ortholog(s) of this gene implicated in cardiomyopathy and left ventricular noncompaction. Orthologous to human DTNA (dystrobrevin alpha). PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies and impaired coordination. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators] |