Population
Nebulette-deficient (nebl-/-) mice generated by replacement of exon 1 by Cre
Design
Preclinical
Follow-up
up to 8 months of age
Authors
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Nebulette knockout preserves basal cardiac function in mice; leaves open its necessity under stress or in human cardiomyopathy.
Nebulette knockout mice maintain normal cardiac function despite Z-line widening and stress marker upregulation, suggesting human nebulette mutations cause cardiomyopathy via dominant gain-of-function effects.
Mastrototaro et al. (2015) studied this question.
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