RediMODEL transgenics in C. elegans
CHRNA7 - nicotinic acetylcholine receptors
- Function: CHRNA7 is a nicotinic acetylcholine receptor acting as a ligand-gated ion channel for mediating fast signal transmission at synapses.
- Disease: Genetic defects in CHRNA7 have been found to be highly associated with Autistic Disorder.
RediMODEL Kit - a series of humanized animal models specifically engineered for easy measurement of phenotype defects caused by clinically-relevant disease mutations.
CHRNA7 RediMODEL KO: Generated in the C. elegans homolog eat-2 with an early stop in coding sequence (ad465) which create a knock-out (KO) strain. Loss of function from eat-2 deletion leads to sluggish uncoordinated activity. Major phenotype readout is the observation of 75% reduction in pumping rate. An outcrossed version of the early stop mutant (ad465) is currently available for preorder as gene knock-out.
CHRNA7 RediMODEL KI: Generated in the C. elegans homolog eat-2 with human gene insertion to create a knock-in (KI) strain. Entire coding of eat-2 is replaced with wild-type CHRNA7 coding sequence. A CHRNA7 gene replacement is available for preorder as a humanized wt line.
CHRNA7 RediMODEL CV: Generated in the C. elegans homolog eat-2 with human gene insertion containing a clinical variant allele to create a clinical-variant (CV) strain. Entire coding of eat-2 is replaced with a CHRNA7 coding sequence containing an amino-acid change polymorphism that has been observed in patient populations. Upon request, a CHRNA7 line with client-specific polymorphism is made as a clinical variant allele.
1. Genetic mechanisms of coffee extract protection in a Caenorhabditis elegans model of β-amyloid peptide toxicity, Link et al., Genetics. 2010 Nov;186(3):857-66. doi: 10.1534/genetics.110.120436. Epub 2010 Aug 30.