Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

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Article

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

American journal of human genetics - 1 Mar 1995

Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S

Abstract excerpt

The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue defects as OHS and may represent a mouse model of this disease. We have analyzed the Menkes/mottled...

Topics

Adenosine Triphosphatases
Adolescent
Animals
Base Sequence
Carrier Proteins
Cation Transport Proteins
Copper
Copper-Transporting ATPases
Cutis Laxa
DNA Mutational Analysis
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Mice

Mice, Neurologic Mutants

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 7887410
PMCID: PMC1801180

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7887410-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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