Article
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.
Neurobiology of disease - 1 Dec 2025
Torres F Javier Llorente, Muchow Roxanne, Woolridge Michelle, Perez-Lopez Dennis, Smith Catherine L, Yeddula Sai Goutham Reddy, Davis Daniel, Cornelison D D W, Arnold W David, Nichols Nicole L, Lorson Christian L, Lorson Monique A
Abstract excerpt
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot Marie Tooth type 2S (CMT2S) are due to mutations in immunoglobulin mu binding protein two (IGHMBP2). We generated the Ighmbp2-R604X mouse (R605X-humans) to understand how alterations in IGHMBP2 function impact disease pathology. The IGHMBP2-R605X mutation is associated with patients with SMARD1 or CMT2S. The impact of this mutation is...
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