International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


GE Elliott
National Human Genome Research Institute

Baxter LL, Pavan W.J.
Genetics Disease Research Branch, National Human Genome Research Institute, National Institutes of Health

Mice with a mutation in the transcription factor Sox10 (Sox10lacZ/+) exhibit developmental neural crest defects, as evidenced by hypopigmentation (reduced melanocyte numbers), and megacolon (reduced enteric ganglia) due to apoptosis of these neural crest derivatives.  We have previously shown that synergistic enhancement of these defects are seen when Sox10lacZ/+ occurs as a double heterozygote with a subset of neural crest mutant loci (ie. Mitf).  ENU mutagenesis can be targeted towards revealing additional genes in specific disease/developmental pathways by combining the ENU with a sensitization screen, where mutations are assessed on a strain background already destabilized by a known mutation.  This is a powerful addition since a mutation that alone may not have a phenotype in the heterozygous state will be revealed when present in combination with another heterozygous mutation.  We are undertaking a screen to discover genes important in neural crest development.  The offspring of mutagenized mice and Sox10Dom/+ mice will be screened for a synergistic increase in hypopigmentation and megacolon, thus indicating the presence of mutations that enhance the neural crest defects of Sox10Dom/+ mice.  New loci that are important in neural crest development will be uncovered, and new alleles of previously identified genes will be generated for analysis of gene function.

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