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Article

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.

Pigment cell research - 1 Jun 2007

Matera Ivana, Cockroft Jody L, Moran Jennifer L, Beier David R, Goldowitz Dan, Pavan William J

Abstract excerpt

A line of mutant mice (114-CH19) exhibiting white spotting and preweaning lethality was identified during an N-ethyl-N-nitrosourea (ENU) mutagenesis screen. The trait segregated as a semidominant bellyspot with reduced penetrance. Homozygous mutant mice showed preweaning lethality, and exhibited white spotting over the majority of the body surface, with pigmented patches remaining around the pinnae, eyes and...

Topics

Animals
Arginine
Chromosome Mapping
Disease Models, Animal
Endothelin-3
Ethylnitrosourea
Gene Expression Regulation
Genetic Linkage
Histidine
Humans
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pigmentation

Point Mutation

Waardenburg Syndrome

Source

Identifiers

PMID: 17516928
DOI: 10.1111/j.1600-0749.2007.00371.x

Genes

EDN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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