Journal article

Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome

Marina R Carpinelli, Elizabeth A Kruse, Benedicta D Arhatari, Marlyse A Debrincat, Jacqueline M Ogier, Jean-Christophe Bories, Benjamin T Kile, Rachel A Burt

AMERICAN JOURNAL OF PATHOLOGY | ELSEVIER SCIENCE INC | Published : 2015

Abstract

E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members of the ETS family of transcription factors, of which there are 28 in humans. Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections. To determine whether any of these defects are because of hemizygosity for ETS1 and FLI1, we characterized the phenotype of mice heterozygous for mutant alleles of Ets1 and Fli1. Fli1(+/-) mice displayed mild thrombocytopenia, as did Ets1(+/-)Fli1(+/-) anim..

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Grants

Awarded by Australian Government's National Health and Medical Research Council program


Awarded by independent research institutes infrastructure support scheme grant


Funding Acknowledgements

Supported by the HEARing Cooperative Research Centre, established and supported under the Cooperative Research Centers Program, an Australian Government Initiative; the Garnett Passe and Rodney Williams Memorial Foundation (M.R.C.); the Australian Government's National Health and Medical Research Council program grants 461219 and 1016647 (B.T.K.) and independent research institutes infrastructure support scheme grant 361646; the Sylvia and Charles Viertel foundation (B.T.K.); and the Victorian State Government's operational infrastructure support program.