Abstract
An extended ENU screen for modifiers of transgene variegation identified four new modifiers, MommeD7-D10.
Highlights
Some years ago we established an N-ethyl-N-nitrosourea screen for modifiers of transgene variegation in the mouse and a preliminary description of the first six mutant lines, named MommeD1-D6, has been published
The fluorescence activated cell sorting (FACS)-based screening is carried out on a drop of blood taken at weaning, using a gate set to exclude 99.9% of autofluorescing cells
We presume that since the mice are homozygous for the green fluorescent protein (GFP) transgene, this is mainly due to an increase in the proportion of expressing cells with two active GFP alleles
Summary
We have extended the screen and have identified four new modifiers, MommeD7D10. We show that all ten MommeDs link to unique sites in the genome, that homozygosity for the mutations is associated with severe developmental abnormalities and that heterozygosity results in phenotypic abnormalities and reduced reproductive fitness in some cases. We have identified the underlying genes for MommeD5 and MommeD10. MommeD5 is a mutation in Hdac, which encodes histone deacetylase 1, and MommeD10 is a mutation in Baz1b ( known as Williams syndrome transcription factor), which encodes a transcription factor containing a PHDtype zinc finger and a bromodomain. We show that reduction in the level of Baz1b in the mouse results in craniofacial features reminiscent of Williams syndrome
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