Madhuri Warren and Wei Wang contributed to this work equally.
A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis†
Article first published online: 10 JAN 2007
Copyright © 2007 Wiley-Liss, Inc.
Volume 45, Issue 1, pages 51–58, January 2007
How to Cite
Warren, M., Wang, W., Spiden, S., Chen-Murchie, D., Tannahill, D., Steel, K. P. and Bradley, A. (2007), A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Genesis, 45: 51–58. doi: 10.1002/dvg.20264
The authors declare that they have no competing financial interests.
- Issue published online: 10 JAN 2007
- Article first published online: 10 JAN 2007
- Manuscript Accepted: 13 NOV 2006
- Manuscript Revised: 2 OCT 2006
- Manuscript Received: 31 JUL 2006
- Wellcome Trust
- bacterial recombineering;
- Okihiro syndrome;
- embryonic stem cells
SALL4 is a homologue of the Drosophila homeotic gene spalt, a zinc finger transcription factor, required for inner cell mass proliferation in early embryonic development. It also interacts with other transcription factors to control the development of the anorectal region, kidney, heart, limbs, and brain. Truncating mutations in SALL4 cause Okihiro syndrome, manifest as Duane anomaly, radial ray defects and sensorineural and conductive deafness. We report the characterization of a novel murine Sall4 null allele created by bacterial recombineering in ES cells. Homozygous mutant mice exhibit early embryonic lethality. Heterozygous mutant mice recapitulate phenotypic features of Okihiro syndrome including deafness, lower anogenital tract abnormalities, renal hypoplasia, anencephaly, Hirschprung's disease, and skeletal defects. This phenotype shows important differences in cardiac and ear manifestations to previously characterized Sall4 mutant alleles and should prove useful for the investigation of the influence of modifier alleles and protein interactions on the transcriptional regulatory function of Sall4. genesis 45:51–58, 2007. © 2007 Wiley-Liss, Inc.