An ENU-Mutagenesis Screen in the Mouse: Identification of Novel Developmental Gene Functions
2011

Identifying New Developmental Gene Functions in Mice

Sample size: 150 publication 10 minutes Evidence: moderate

Author Information

Author(s): Wansleeben Carolien, van Gurp Léon, Feitsma Harma, Kroon Carla, Rieter Ester, Verberne Marlies, Guryev Victor, Cuppen Edwin, Meijlink Frits

Primary Institution: Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Utrecht, The Netherlands

Hypothesis

Can a phenotype-based screen in mice identify novel gene functions affecting embryonic development?

Conclusion

The study successfully identified several novel mutant alleles linked to disrupted morphogenesis during development.

Supporting Evidence

  • Identified at least 25 mutant lines with various phenotypes affecting embryonic development.
  • Novel mutant alleles were isolated for genes previously linked to developmental defects.
  • Mutations were linked to specific phenotypes such as cardiac edema and neural tube defects.

Takeaway

Researchers used a special method to find new genes that help embryos develop properly in mice, discovering many new mutations that cause problems.

Methodology

Mice were mutagenized with ENU, and embryos were analyzed at embryonic day 10.5 for mutant phenotypes.

Potential Biases

The genetic purity of the mouse strain used for mutagenesis was not always verified, which could affect results.

Limitations

Some potentially genuine mutant lines were abandoned due to unclear mapping data or insufficient reproducibility of phenotypes.

Participant Demographics

C57BL/6 inbred male mice were used for the mutagenesis.

Digital Object Identifier (DOI)

10.1371/journal.pone.0019357

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