The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene.

doi:10.1006/geno.1993.1333

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Article

The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene.

Genomics - 1 Aug 1993

Vogan K J, Epstein D J, Trasler D G, Gros P

Abstract excerpt

The splotch (Sp) mouse mutant displays defects in neural crest cell migration and neural tube closure and serves as a model for the study of spina bifida, exencephaly, and Waardenburg syndrome type I in humans. Recently, we have described alterations in the Pax-3 gene for the radiation-induced Sp...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Crosses, Genetic
DNA
Embryo, Mammalian
Heterozygote
Homozygote
Humans
Mice
Mice, Inbred C3H
Mice, Inbred C57BL
Mice, Neurologic Mutants
Molecular Sequence Data
Nervous System Diseases
Oligodeoxyribonucleotides
Phenotype

Source

Open in PubMed

Identifiers

PMID: 8406487
DOI: 10.1006/geno.1993.1333

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8406487-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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