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Article

Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse.

Cardiovascular research - 1 Nov 1997

Conway S J, Henderson D J, Kirby M L, Anderson R H, Copp A J

Abstract excerpt

OBJECTIVE: The splotch (Sp2h) mutation disrupts the Pax3 gene and is lethal in homozygotes. The aim of the present study was to investigate the cause of lethality. METHODS AND RESULTS: Using the splotch (Sp2H) mouse mutant, we demonstrated that approximately 60% of Sp2H homozygotes die in utero at 13.5-14.5 days of gestation. All these embryos have cardiac malformations involving partial or complete failure of...

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Identifiers

PMID: 9463628
DOI: 10.1016/s0008-6363(97)00172-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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