A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis
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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.
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Deletion of the Sall4 gene leads to embryonic lethality shortly after implantation.
“Deletion of the Sall4 gene leads to embryonic lethality shortly after implantation (Sakaki-Yumoto et al., 2006; Elling et al., 2006; Warren et al., 2007).”
From SALL4 controls cell fate in response to DNA base composition (2021) · cites this paper as Warren et al., 2007
The Results report that homozygous Sall4 mutants were present at E3.5 but absent at the stages examined from E8.5 onward, placing death between E3.5 and E8.5. This supports early embryonic lethality after deletion, but does not establish that death occurs specifically shortly after implantation. No page number is available in our copy. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe pattern of missense depletion varies within the SALL family.
“The pattern of missense depletion varies within this family, as would be expected from their apparently differing roles in development (Parrish et al, 2004; Sweetman & Munsterberg, 2006; Warren et al, 2007; Yamashita et al, 2007).”
From Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome (2023) · cites this paper as Warren et al, 2007
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“In mice, Sall4 has been shown to play an essential role in peri-implantation development (Elling et al., 2006; Sakaki-Yumoto et al., 2006;Warren et al., 2007), while Sall1 is dispensable for early embryogenesis but is essential for kidney development (Kanda et al.”
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SALL4 controls cell fate in response to DNA base composition
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Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome
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“The pattern of missense depletion varies within this family, as would be expected from their apparently differing roles in development (Parrish et al, 2004; Sweetman & Munsterberg, 2006; Warren et al, 2007; Yamashita et al, 2007).”
- Authors
- Warren, M., Wang, W., Spiden, S., Chen‐Murchie, D., Tannahill, D., Steel, K. P., & Bradley, A.
- Affiliations
- University of Cambridge (GB)
- Wellcome Sanger Institute (GB)
- Corresponding author
- Bradley, Allan
- Venue
- genesis
- Publisher
- Wiley
- Published
- 2007-01
- Volume
- 45
- Issue
- 1
- Pages
- 51-58
- ISSN
- 1526-954X (ISSN-L)
- 1526-968X
- PMC
- PMC2593393
- OpenAlex
- W2083487263
- Cited by
- 69
- References
- 24
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 3 · 2019: 2 · 2018: 5 · 2017: 4 · 2016: 4 · 2015: 2 · 2014: 7 · 2013: 6 · 2012: 6
- FWCI
- 2.12
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- genesis (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust (077187, 79643)
- Medical Research Council (MC_qA137918)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- SALL4, early embryonic lethality, organogenesis, zinc finger transcription factor, anorectal malformation, renal hypoplasia, anencephaly, Hirschprung's disease, sensorineural hearing loss, conductive hearing loss, radial ray defects, embryonic stem cells, modifier alleles
- MeSH terms
- Animals, DNA-Binding Proteins, Duane Retraction Syndrome, Microscopy, Electron, Scanning, Mutation, Transcription Factors, Organogenesis, Embryonic Development, Mice
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