| 13518 |
Q91ZU6 |
DYST_MOUSE |
Dystonin (Bullous pemphigoid antigen 1) (BPA) (Dystonia musculorum protein) (Hemidesmosomal plaque protein) (Microtubule actin cross-linking factor 2) |
DISRUPTION PHENOTYPE |
Mice show progressive deterioration in motor function and sensory neurodegeneration. Exhibit axonal swellings packed with disorganized intermediate filaments (IFs) and microtubules. Show poorly defined Z lines and display a reduction in sarcomere length. Have increased accumulation of vesicles and severely disrupted retrograde axonal transport. In stratified epithelia, hemidesmosomes are normal but they lack the inner plate and have no cytoskeleton attached. {ECO:0000269|PubMed:10357897, ECO:0000269|PubMed:10428034, ECO:0000269|PubMed:14581450, ECO:0000269|PubMed:17287360, ECO:0000269|PubMed:7736575}. |