The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

Neurobiol Dis · 2025 · PMC12807513 · PMID 41276031

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a clear trendno p-value reported

When the distribution of phrenic nerve axon area was analyzed, Ighmbp2 R604X/R604X showed a clear trend towards more, smaller phrenic nerve axons when compared to wild type and Ighmbp2 +/R604X mice ( Fig. 5G ).

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