International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 26 - CHARACTERISATION OF SHORTY, AN ENU DERIVED MUTANT MOUSE WITH DEFECTS IN RIB FORMATION

Harboe TL 1, Herron B 2, Beier DR 1

1 Genetics Division, Harvard Medical School, Brigham & Women’s Hospital, Boston, United States, 2 Wadsworth Center NYS Department of Health, Albany, United States, 3 Genetics Division, Harvard Medical School, Brigham & Women’s Hospital, Boston, United States

Here we report the characterization of an ENU-induced mutant mouse we call shorty (srt) that was identified in a screen for late embryonic developmental phenotypes.The mutant has a severe malformation of the thoracic vertebrae and is lacking several ribs. The development of the lumbar vertebrae appears to be normal as do the long bones. The defect is lethal and the affected pups are usually stillborn and smaller in size than wild type littermates. The phenotype of srt is similar to a group of human disorders called spondylocostal dysostosis, characterised by abnormal vertebral segmentation. The phenotype is similar to that of pudgy (pu), which is caused by a mutation in Dll3, a Notch ligand. Our mapping analysis has excluded the possibility that srt is an allele of pu, since the mutation have been localised to mouse chromosome 17 in a 1.47 MB region in the interval between D17Mit34 and D17Mit11 by genetic mapping. The region is within the MHC region and hence very gene rich. We are currently sequencing 10 candidate genes. Also under investigation is the expression of various genes involved in somitogenesis such Pax1 and -9, Shh, Dll1, Lfng and -3 and Msx1 and -2. This novel mutant results in abnormal rib development and could provide insight into the patterning of the paraxial mesoderm and somitogenesis.

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