NGLY1 Knockout mice in Japan


By Quirine Eijkenboom


Open tools and reagents are critical in the advancement of medicine and research.  Model organisms are especially beneficial because they can be used to study genes involved in certain diseases, increase the understanding about disease pathogenesis and also act as great models for the testing potentially useful drugs and therapeutics. The information gained from research involving model organisms can often be translated to humans, as a lot of genes, biological processes and pathways are evolutionarily conserved between species. 

As vertebrates, mice are particularly useful because they have a lot of genetic and physiological overlap with humans. Many organ-specific questions can be answered with information gained from mice studies.  Other advantages are that the mouse genome can be easily manipulated, mice reproduce pretty quickly and they have a rather low cost of maintenance.

Enough background information, now to the good news! This week, the NGLY1 knockout mice in Japan became open and available to the public, which will be groundbreaking for our research team working on elucidating the pathophysiology of NGLY1 deficiency and identifying possible drugs and therapeutics for the disease. The mice are so-called NGLY1 “knockout” mice because the researchers have altered the NGLY1 gene in such a way that it has become defective and lost normal function. This allows for the establishment of a mouse model that reflects human NGLY1 deficiency.

This specific mouse strain was developed by Dr. Tadashi Suzuki and his team at RIKEN in Japan, who we are proudly supporting and collaborating with, to help lead science to a cure for NGLY1 deficiency. More information about the mice can be found here: 

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