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Article

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.

Human molecular genetics - 1 May 2013

Cobb Melissa S, Rose Ferril F, Rindt Hansjörg, Glascock Jacqueline J, Shababi Monir, Miller Madeline R, Osman Erkan Y, Yen Pei-Fen, Garcia Michael L, Martin Brittanie R, Wetz Mary J, Mazzasette Chiara, Feng Zhihua, Ko Chien-Ping, Lorson Christian L

Abstract excerpt

Spinal Muscular Atrophy (SMA) is due to the loss of the survival motor neuron gene 1 (SMN1), resulting in motor neuron (MN) degeneration, muscle atrophy and loss of motor function. While SMN2 encodes a protein identical to SMN1, a single nucleotide difference in exon 7 causes most of the SMN2-derived transcripts to be alternatively spliced resulting in a truncated and unstable protein (SMNΔ7). SMA patients retain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23390132
DOI: 10.1093/hmg/ddt037

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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