Scn5a^em1Coop
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn5a^em1Coop
• Name: sodium channel, voltage-gated, type V, alpha; endonuclease-mediated mutation 1, Thomas A Cooper
• MGI ID: MGI:6415727
• Synonyms: Scn5a^deltae6B
• Gene: Scn5a Location: Chr9:119312474-119408082 bp, - strand Genetic Position: Chr9, 71.33 cM
• Alliance: Scn5a^em1Coop page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to delete the alternate exon 6B and redirect splicing to exon 6A. This results in expression of only the fetal isoform. RT-PCR of heart tissue confirmed that homozygotes exclusively express Scn5a with exon 6A and heterozygotes have approximately 70% Scn5a with exon 6A. (J:279087)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Scn5a Mutation: 105 strains or lines available

References

• Original: J:279087 Pang PD, et al., CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias. J Am Heart Assoc. 2018 Oct 2;7(19):e010393
• All: 1 reference(s)