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Article

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

Nature genetics - 1 Sept 1992

Steel K P, Smith R J

Abstract excerpt

Splotch is considered a model of Waardenburg syndrome type I (WSI) because the abnormalities are caused by mutations in homologous genes, Pax-3 in mice and PAX3 (HuP2) in humans. We examined inner ear structure and function in Splotch mutants (Sp/+) and found no sign of auditory defects, in contrast to the deafness in many WSI individuals. The difference in expression of the genes in the two species may be due to...

Topics

Animals
Chromosome Mapping
Disease Models, Animal
Ear, Inner
Female
Gene Expression
Hearing
Heterozygote
Humans
Male
Mice
Phenotype
Pigmentation Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Species Specificity

Waardenburg Syndrome

Source

Identifiers

PMID: 1303254
DOI: 10.1038/ng0992-75

Genes

PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1303254-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.PMID 1303254Read ↗

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Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.Semantic proximity Read ↗

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A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant.Semantic proximity Read ↗

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