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Article

A new missense mutation in the paired domain of the mouse Pax3 gene.

Experimental animals - 5 Aug 2017

Ohno Tamio, Maegawa Tomoki, Katoh Hiroto, Miyasaka Yuki, Suzuki Miyako, Kobayashi Misato, Horio Fumihiko

Abstract excerpt

Mice with dominant white spotting occurred spontaneously in the C3.NSY-(D11Mit74-D11Mit229) strain. Linkage analysis indicated that the locus for white spotting was located in the vicinity of the Pax3 gene on chromosome 1. Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to...

Topics

Alleles
Amino Acid Sequence
Animals
DNA
Disease Models, Animal
Helix-Turn-Helix Motifs
Humans
Isoleucine
Methionine
Mice, Inbred Strains
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

PAX3 Transcription Factor

Point Mutation

Protein Binding

Protein Domains

Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 28381738
DOI: 10.1538/expanim.17-0013
PMCID: PMC5543245

Genes

PAX3

Variants

Provenance

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

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