Mutations in Filamin C Associated with Both Alleles Do Not Affect the Functioning of Mice Cardiac Muscles.

Filamin C (FLNC) is a structural protein of muscle fibers. Mutations in the gene are known to cause myopathies and cardiomyopathies in humans. Here we report the generation by a CRISPR/Cas9 editing system injected into zygote pronuclei of two mouse strains carrying filamin C mutations-one of them (AGA) has a deletion of three nucleotides at position c.

E12.5 whole mouse embryo culture.

Ex utero culture of postimplantation embryos remains one of the unsolved tasks in developmental biology. This technique may be required for infertility treatment, observation of embryo development and assessing the embryotoxicity of certain chemical agents. We describe novel method for E12.

Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.

Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder caused by an array of mutations in the dystrophin gene, with the most commonly mutated regions being exons 48-55. One of the several existing approaches to treat DMD is gene therapy, based on alternative splicing and mutant exon skipping. Testing of such therapy requires animal models that carry mutations homologous to those found in human patients.