A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.

doi:10.1007/s003359900457

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 1997

Mori M, Nishimura M

Abstract excerpt

We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. A point mutation (T to C) that results in substitution of proline for serine in a putative eighth transmembrane domain of the ATP7A was identified. This contrasts with abnormalities identified in the Atp7a of other mottled mouse strains: lack of expression of Atp7a...

Topics

Adenosine Triphosphatases
Animals
Carrier Proteins
Cation Transport Proteins
Copper-Transporting ATPases
Deoxyribonuclease BamHI
Disease Models, Animal
Female
Homozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Menkes Kinky Hair Syndrome

Mice

Mice, Inbred BALB C

Mice, Inbred C3H

Mice, Inbred C57BL

Mice, Mutant Strains

Mutation

Source

Open in PubMed

Identifiers

PMID: 9166584
DOI: 10.1007/s003359900457

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.PMID 9166584Read ↗

Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.Semantic proximity Read ↗

Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.Semantic proximity Read ↗

Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.Semantic proximity Read ↗

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.Semantic proximity Read ↗

Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a mo-ms) - An animal model for Menkes disease.Semantic proximity Read ↗

Intragenic deletions at Atp7a in mouse models for Menkes disease.Semantic proximity Read ↗

Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.Semantic proximity Read ↗

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.Semantic proximity Read ↗

The mottled gene is the mouse homologue of the Menkes disease gene.Semantic proximity Read ↗

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.Semantic proximity Read ↗

Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.Semantic proximity Read ↗

[Mice with mottled mutation--a model for defective copper metabolism in humans].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.