Clcn4 rat models – they are here! 

Thanks to the fundraising efforts of the CLCN4 community, who helped us raise £50,000 towards this project, and the fantastic work of the PHENOMIN-ICS team (France), two Clcn4 rat models are now available to researchers! Wondering what this means? Keep reading for an easy-to-understand summary!

What is an animal model? 

To better understand the complexities of CLCN4-related condition, researchers need tools to study them.

One such tool is an animal model. An animal model is a type of animal, such as a rat or a mouse, that scientists use to study diseases and test potential treatments. These animals are genetically modified and bred to mimic aspects of a specific disease, such as CLCN4-related condition, so that researchers can better understand how the disease works, how it progresses and how it might be treated.

Why are animal models important?

Animal models are incredibly important because they allow scientists to study diseases and test potential treatments in a controlled environment before trying them in humans. This can save time and resources, and it also helps to ensure that treatments are safe and effective before they are given to people. For CLCN4-related condition an animal model will help scientists learn about: 

  • How the protein CIC-4, made by the CLCN4 gene, works in the brain.
  • How a mutation or ‘glitch’ in the CLCN4 gene causes the problems we see.
  • How we might be able to treat CLCN4-related condition to improve quality of life, health, and outlook.

What Clcn4 rat models has Cure CLCN4 generated? 

In simplified terms, in patients, changes or ‘glitches’ in the CLCN4 gene can have one of two effects:

A loss of function – meaning that the protein stops working
A gain of function – meaning that the protein is more active or works abnormally

Therefore, we generated two types of Clcn4 rats:

A rat with a missing Clcn4 gene, also called a knockout, and hence mimicking a loss of function.
A rat with a Clcn4 change which in humans has been described as being gain of function, hence mimicking a gain of function.

Thus, the two generated rats match the two broad effects of CLCN4 gene changes observed in humans.

What is the next step?

Now the Clcn4 rats are here, the next step is to characterize them, which involves studying them in detail to better understand how their genetics and biology relate to the human disease. This can be challenging, and expensive, but it is essential to ensure that the models accurately represent the disease and can be used effectively in research.

Can I help? 

Yes, you can! The work needed to characterize the rat models is costly. If you would like to support us in funding this project you can donate or fundraise. 100% donations go towards research.

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