Summaries by Inventor Remedi, Maria

A genetic mouse model of human Cantu Syndrome based on Kcnj8em1Nich[V65M] mutation
Nichols, Colin ; Remedi, Maria
T-019073

— This is a CRISPR/Cas9 germline mutation in the KCNJ8 gene, equivalent to a human Cantu Syndrome mutation. The mouse is therefore a genetic model of human Cantu Syndrome. This mouse model can be used for pre-clinical testing of targeted therapy for Cantu Syndrome. Publication: Cardiovascular consequ…

A genetic mouse model of human Cantu Syndrome based on Abcc9em1Nich SUR2[A476V] mutation
Nichols, Colin ; Remedi, Maria
T-019072

— This mouse model was generated by using CRISPR/Cas9 to mutate the ABCC9 gene. The mouse model described here could be used as a pre-clinical model for testing Cantu Syndrome therapies. Publication: Cardiovascular consequences of KATP overactivity in Cantu syndrome