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Scientists have shown that inactivating the same gene in mouse embryos that are virtually genetically identical can result in a wide range of different physical features or abnormalities.

The findings suggest that the relationship between gene mutation and consequence is more complex than previously thought.

Doctors often find that people with the same genetic disease can display very different symptoms. This is in part due to the fact that we all differ in our precise genetic make-up.

This study in mice shows that even when individuals have virtually identical genomes, there can be a variety of different outcomes.

"This study throws new light on what we thought was a fairly straightforward relationship between what’s coded in our genes and how we develop," said Dr Andrew Chisholm, Wellcome's Head of Cellular and Developmental Sciences.

"Researchers need to appreciate this added layer of complexity, as well as endeavouring to unpick the intricate processes of genetic control at play."

The different outcomes were identified by researchers from the Wellcome-funded Deciphering the Mechanisms of Development Disorders (DMDD) consortium. They looked at 220 mouse embryos, each missing one of 42 different genes. By scanning the entire embryo in minute detail, the researchers picked up on even the smallest differences in features – right down to whether the structure of individual nerves, muscles and small blood vessels were abnormal. Dr Dorota Szumska, who works with Prof Shoumo Bhattacharya – a co-applicant on this grant, was an annotator on this large project. Dorota analysed the embryos along with a team in Vienna. They scored any structural abnormalities present in the 14.5 day old embryos of mice with missing genes. They have made these annotations available on the DMDD website so that the data is accessible to other researchers. Aside from her role in this project as an annotator, Dorota is interested in any cardia abnormalities found in these mice embryos and hopes to follow up on the most interesting genes to help better understand heart disease in people.

The researchers note that this was a ‘surprising’ result and stress the need for more research into gene function to fully understand the findings.

You can read more about the study on Wellcome Open Research.

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