Details
| Name | NA |
| Type | somatic mutation |
| Species | Mus musculus |
| Tissue | murine embryonic fibroblasts |
| Experiment Method | Western Blotting,qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | Here, we show that mouse fibroblasts bearing heterozygous or homozygous point mutation in Dync1h1, similar to human mutations, show profoundly abnormal mitochondrial morphology associated with the loss of mitofusin 1. Furthermore, heterozygous Dync1h1 mut |
| Regulation Gene | Dync1h1 |
| Year | 2013 |
| Pubmed ID | 23742762 |
| Title | Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age |
| Drug | NA |
| Disease | hereditary motor neuropathies |
| Environment Factors | NA |
| Circulating | NA |
| Variant | somatic mutation |
| High-throughput | NA |