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Article

Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype.

Journal of pediatric surgery - 1 Jul 2004

Brizzolara Antonella, Torre Michele, Favre Anna, Pini Prato Alessio, Bocciardi Renata, Martucciello Giuseppe

Abstract excerpt

BACKGROUND/PURPOSE: The spontaneous mouse mutant Dominant megacolon (Dom) represents the model of the Waardenburg-Hirschsprung's disease, a syndromic pathology, characterized by the association of pigmentation defects (PD), deafness, and Hirschsprung's disease (HD). The defect in Dom mouse is caused by a spontaneous mutation of the gene encoding the Sry-related transcription factor Sox10. This mutation affects...

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Source

Identifiers

PMID: 15213907
DOI: 10.1016/j.jpedsurg.2004.03.046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype.PMID 15213907Read ↗

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Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.Semantic proximity Read ↗

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.Semantic proximity Read ↗

Enteric Nervous System: Development and Developmental Disturbances—Part 1Semantic proximity Read ↗

Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung diseaseSemantic proximity Read ↗

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.Semantic proximity Read ↗

Refining the Sox10Dom/+ mouse model: A new breeding strategy with relevance to Hirschsprung disease genetics.Semantic proximity Read ↗

Combinatorial multiomic analysis from a pedigree of Sox10 <sup>Dom</sup> Hirschsprung mice implicates Dach1 as a modifier of Enteric Nervous System developmentSemantic proximity Read ↗

Early Death of Neural Crest Cells is Responsible for Total Enteric Aganglionosis in <i>Sox10</i><sup><i>Dom</i></sup>/<i>Sox10</i><sup><i>Dom</i></sup> Mouse EmbryosSemantic proximity Read ↗

The role of SOX10 during enteric nervous system development.Semantic proximity Read ↗

Enteric glial cell diversification is influenced by spatiotemporal factors and source of neural progenitors in miceSemantic proximity Read ↗

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.Semantic proximity Read ↗

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