RediMODEL transgenics in C. elegans
DMD - dystrophin
- Function: DMD is a connective protein critical for linking muscle fibers to the plasma membrane of muscle cells.
- Disease: Genetic defects in DMD have been found to be highly associated with Duchene Muscular Dystrophy.
RediMODEL Kit - a series of humanized animal models specifically engineered for easy measurement of phenotype defects caused by clinically-relevant disease mutations.
DMD RediMODEL KO: Generated in the C. elegans homolog dys-1 is a 3-frame-stop inserted in the last 1/3rd of sequence. The result is a loss of function allele in the dys-1 gene. Major phenotype readout is the observation of increased pharynx pumping frequency relative to wild type. The 3-frame-stop allele is currently available as gene knock-out.
DMD RediMODEL KI: Generated in the C. elegans homolog dys-1 with human gene insertion to create a knock-in (KI) strain. Entire coding of dys-1 dominant transcript is replaced with wild-type DMD coding sequence. A DMD gene replacement is available for preorder as a humanized wt line.
DMD RediMODEL CV: Generated in the C. elegans homolog dys-1 with human gene insertion containing a clinical variant allele to create a clinical-variant (CV) strain. Entire coding of major isoform of dys-1 is replaced with DMD coding sequence containing amino-acid change polymorphism that has been observed in patient populations. Upon request, a DMD line with client-specific polymorphism is made as a clinical variant allele.
3. The burrowing behavior of the nematode Caenorhabditis elegans: a new assay for the study of neuromuscular disorders, Pierce-Shimomura et al., Genes Brain Behav. 2015 Apr;14(4):357-68. doi: 10.1111/gbb.12217.