Characterizing the C57BL/6J-Ighmbp2C495del mouse strainas a model for the study of SMARD1

Document Type


Publication Date

Summer 2021

JAX Location

In: Student Reports, Summer 2021, The Jackson Laboratory


Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy type 1 (DSMA1), is a rare genetic disease caused by recessive deleterious mutations in the IGHMBP2 gene that often leads to respiratory failure in the first 6 months of an infant’s life. Currently, there is only one mouse model to study the disease, B6.BKS-Ighmbp2-nmd2J/J (nmd2J ), which fails to represent the range of severity found in children who suffer from this devastating disease. This project will focus on characterizing the Cox lab’s C57BL/6J-Ighmbp2C495del (C495del hereafter) mouse strain as a translatable model for the study of severe SMARD1. However, measuring respiration in mouse pups is particularly difficult due to a lack of specialized equipment and techniques. Thus, during this project we will also optimize the non-invasive PiezoSleep system, originally designed to monitor gross body movement and analyze data regarding sleep/wake cycles in rodents, for studying respiration in mouse pups, further facilitating the study of early childhood disease in rodents. Axon counts and area measurements from key nerves show clear neuromuscular degeneration in the C495del strain that is translatable to that of severe SMARD; moreover, analysis of respiratory data collected with the PiezoSleep system, along with muscle fiber area measurements from impacted areas, further confirm this phenotype.

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