RGD Reference Report - Sox4-deficiency syndrome in mice is an animal model for common trunk. - Rat Genome Database

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Sox4-deficiency syndrome in mice is an animal model for common trunk.

Authors: Ya, J  Schilham, MW  De Boer, PA  Moorman, AF  Clevers, H  Lamers, WH 
Citation: Ya J, etal., Circ Res. 1998 Nov 16;83(10):986-94.
RGD ID: 1581306
Pubmed: PMID:9815146   (View Abstract at PubMed)

Embryonic mice lacking functional Sox4 transcription factor die from cardiac failure at embryonic day (ED) 14. Heart morphogenesis in these embryos was analyzed in hematoxylin-azophlochsin or immunohistochemically stained, 3-dimensionally reconstructed serial sections between ED12 and ED14. Although Sox4 is expressed in the endocardially derived tissue of both the outflow tract and atrioventricular canal, Sox4-deficient hearts only suffer from defective transformation of the endocardial ridges into semilunar valves and from lack of fusion of these ridges, usually resulting in common trunk, although the least affected hearts should be classified as having a large infundibular septal defect. The more serious cases are, in addition, characterized by an abnormal number and position of the semilunar valve-leaflet anlagen, a configuration of the ridges typical for transposition of the great arteries (with linear rather than spiral course of both ridges and posterior position of the pulmonary trunk at the level of the valve), and variable size of the aorta relative to the pulmonary trunk. The coronary arteries always originated from the aorta, irrespective of its position relative to the pulmonary trunk. The restriction of the malformations to the arterial pole implies that the interaction between the endocardially derived tissue of the outflow tract and the neural crest-derived myofibroblasts determines proper development of the arterial pole.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
heart disease  ISOSox4 (Mus musculus)1581306; 1581306 RGD 
heart disease  IDA 1581306 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sox4  (SRY-box transcription factor 4)

Genes (Mus musculus)
Sox4  (SRY (sex determining region Y)-box 4)

Genes (Homo sapiens)
SOX4  (SRY-box transcription factor 4)


Additional Information