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Article

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

The Journal of cell biology - 6 Jan 2003

Monani Umrao R, Pastore Matthew T, Gavrilina Tatiana O, Jablonka Sibylle, Le Thanh T, Andreassi Catia, DiCocco Jennifer M, Lorson Christian, Androphy Elliot J, Sendtner Michael, Podell Michael, Burghes Arthur H M

Abstract excerpt

5q spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading genetic cause of infantile death. Patients lack a functional survival of motor neurons (SMN1) gene, but carry one or more copies of the highly homologous SMN2 gene. A homozygous knockout of the single murine Smn gene is embryonic lethal. Here we report that in the absence of the SMN2 gene, a mutant SMN A2G...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Motor Neurons

Share to Muscular Atrophy, Spinal

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Source

Open in PubMed Open full text

Identifiers

PMID: 12515823
DOI: 10.1083/jcb.200208079
PMCID: PMC2172739

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.PMID 12515823Read ↗

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