RediMODEL transgenics in C. elegans
PSEN1 - presenilin
- Function: PSEN1 is one of the four core proteins in the gamma secretase complex.
- Disease: Genetic defects in PSEN1 have been found to be highly associated with Alzheimer's Disease.
RediMODEL Kits - a series of humanized animal models specifically engineered for easy measurement of phenotype defects caused by clinically-relevant disease mutations.
PSEN1 RediMODEL KO: Generated in the C. elegans homolog sel-12 with a majority of the coding sequence deleted to create a knock-out (KO) strain. Loss of function from sel-12 deletion leads to an egg-laying defective phenotype. The most prevalent readout is the observation of a "bag of worms" phenotype in adult animals. A 4x outcrossed version currently available for preorder as gene knock-out.
PSEN1 RediMODEL KI: Generated in the C. elegans homolog sel-12 with human gene insertion to create a knock-in (KI) strain. Entire coding of sel-12 is replaced with wild-type PSEN1 coding sequence. A PSEN1 gene replacement is available for preorder as a humanized wt line.
PSEN1 RediMODEL CV: Generated in the C. elegans homolog sel-12 with human gene insertion containing a clinical variant allele to create a clinical-variant (CV) strain. Entire coding of sel-12 is replaced with PSEN1 coding sequence containing an amino-acid change polymorphism that has been observed in patient populations. Upon request, a PSEN1 line with client-specific polymorphism is made as a clinical variant allele.
1. Li et al., Use of Caenorhabditis elegans as a model to study Alzheimer's disease and other neurodegenerative diseases, Front Genet. 2014 Sep 5;5:279. doi: 10.3389/fgene.2014.00279. eCollection 2014.
3. Johnson et al., Reverse genetic analysis of Caenorhabditis elegans presenilins reveals redundant but unequal roles for sel-12 and hop-1 in Notch-pathway signaling, Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2497-502.