Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.

doi:10.1006/geno.1994.1341

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Article

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.

Genomics - 1 Jul 1994

George A M, Reed V, Glenister P, Chelly J, Tümer Z, Horn N, Monaco A P, Boyd Y

Abstract excerpt

Menkes disease (MNK) lies immediately proximal to pphosphoglycerate kinase (PGK1) in Xq13 in human. Phenotypic similarities between MNK patients and murine mottled (Mo) mutants strongly suggest that both defects are caused by mutations at the same locus. Human MNK cDNA clones and a genomic subclone derived from a 40-kb YAC clone that includes Pgk1 have been used to position the murine homologue of Menkes disease...

Topics

Animals
Chromosomes, Artificial, Yeast
DNA, Complementary
Disease Models, Animal
Electrophoresis, Gel, Pulsed-Field
Female
Genes, Lethal
Genetic Linkage
Humans
Male
Menkes Kinky Hair Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mice, Inbred C57BL

Mice, Mutant Strains

Mutation

Phenotype

Phosphoglycerate Kinase

Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 7959788
DOI: 10.1006/geno.1994.1341

Genes

PGK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7959788-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.PMID 7959788Read ↗

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.Semantic proximity Read ↗

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.Semantic proximity Read ↗

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

Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q.Semantic proximity Read ↗

High-resolution genetic, physical, and transcript map of the mnd2 region of mouse chromosome 6.Semantic proximity Read ↗

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

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.Semantic proximity Read ↗

Diverse mutations in patients with Menkes disease often lead to exon skipping.Semantic proximity Read ↗

Genetic mapping near the myd locus on mouse chromosome 8.Semantic proximity Read ↗

Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model miceSemantic proximity Read ↗

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.Semantic proximity Read ↗

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