RGD Reference Report - A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. - Rat Genome Database

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A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis.

Authors: Warren, M  Wang, W  Spiden, S  Chen-Murchie, D  Tannahill, D  Steel, KP  Bradley, A 
Citation: Warren M, etal., Genesis. 2007 Jan;45(1):51-8.
RGD ID: 11556215
Pubmed: PMID:17216607   (View Abstract at PubMed)
PMCID: PMC2593393   (View Article at PubMed Central)
DOI: DOI:10.1002/dvg.20264   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Duane retraction syndrome  ISOSall4 (Mus musculus)11556215; 11556215 RGD 
Duane retraction syndrome  IMP 11556215 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sall4  (spalt-like transcription factor 4)

Genes (Mus musculus)
Sall4  (spalt like transcription factor 4)

Genes (Homo sapiens)
SALL4  (spalt like transcription factor 4)


Additional Information