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Strain-specific modifier genes governing craniofacial phenotypes.

Partha Mukhopadhyay1, Guy Brock, Cynthia Webb

  • 1University of Louisville Birth Defects Center, Department of Molecular, Cellular and Craniofacial Biology, ULSD, University of Louisville, Louisville, Kentucky 40292, USA.

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|February 29, 2012
PubMed
Summary
This summary is machine-generated.

Genetic modifier genes influence mouse phenotypes. This study identified potential strain-specific modifier genes in C57BL6J and 129P3 mouse backgrounds by analyzing gene expression differences in developing neural tubes.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Genomics

Background:

  • Strain-specific modifier genes significantly impact the phenotype and pathophysiology of genetically engineered mice.
  • Understanding these modifiers is crucial for controlling phenotypic expression in genetic research.
  • The transcriptional regulator c-Ski's knockout (Ski-/-) results in distinct phenotypes (facial clefting vs. exencephaly) depending on the mouse genetic background (C57BL6J vs. 129P3).

Purpose of the Study:

  • To identify potential strain-specific modifier gene candidates influencing craniofacial phenotypes.
  • To compare gene expression profiles between wild-type C57BL6J (B6) and 129P3 (129) mouse backgrounds.

Main Methods:

  • Oligonucleotide-based gene expression profiling was employed to analyze wild-type B6 and 129 mice.
  • Quantitative real-time PCR (TaqMan) was used to validate observed gene expression changes.

Main Results:

  • Significant differences in gene expression were observed in the developing neural tubes of embryonic day 8.5 (E8.5) B6 and 129 embryos.
  • 89 genes showed significantly higher expression levels in B6 embryos compared to 129 embryos.
  • 68 genes exhibited significantly lower expression levels in B6 embryos compared to 129 embryos.

Conclusions:

  • The comparative microarray study identified several candidate strain-specific genes.
  • These candidate genes are likely to modify craniofacial phenotypes in various mouse knockout models.
  • Further investigation into these identified genes can enhance the understanding of genetic influences on developmental phenotypes.