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Eric Delpire and his team used CRISPR-Cas9 to create a new mouse model through the TMESCSR carrying an 11-bp deletion in SLC12A2, the gene encoding Na-K-2Cl cotransporter-1. The mutation, originally identified as a heterozygous mutation in a 16 year old patient with multisystem failure, causes a frameshift and early termination of the protein ending in aspartic acid, phenylalanine, STOP (DFX).

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