Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.

doi:10.1002/(SICI)1097-4547(19970915)49:6<671::AID-JNR2>3.0.CO;2-4

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Article

Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.

Journal of neuroscience research - 15 Sept 1997

Adlkofer K, Naef R, Suter U

Abstract excerpt

The most common form of Charcot-Marie-Tooth disease, CMT1A, is correlated with a 1.5 megabase duplication on chromosome 17p.11.2 containing the peripheral myelin protein 22 (PMP22) gene. Deletion of the same region is associated with a second inherited neural disorder, the hereditary neuropathy w...

Topics

Alleles
Animals
Behavior, Animal
Blotting, Western
Charcot-Marie-Tooth Disease
Disease Models, Animal
Female
Genotype
Hereditary Sensory and Motor Neuropathy
Heterozygote
Immunohistochemistry
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mice, Inbred C57BL

Mice, Neurologic Mutants

Microscopy, Electron

Mutagenesis

Myelin Proteins

Source

Open in PubMed

Identifiers

PMID: 9335255
DOI: 10.1002/(SICI)1097-4547(19970915)49:6<671::AID-JNR2>3.0.CO;2-4

Genes

PMP22
MBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9335255-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.PMID 9335255Read ↗

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