Dsp^em1Melr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dsp^em1Melr
• Name: desmoplakin; endonuclease-mediated mutation 1, Mona El Refaey
• MGI ID: MGI:7464254
• Synonyms: Dsp^R451G
• Gene: Dsp Location: Chr13:38335357-38382553 bp, + strand Genetic Position: Chr13, 18.0 cM
• Alliance: Dsp^em1Melr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 463 (CGG) in exon 11 was changed to glycine (GGG) (p.R463G) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.R451G mutation associated with arrhythmogenic cardiomyopathy (ACM). (J:330171)

Expression

In Structures Affected by this Mutation:

1 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 Dsp Mutation: 136 strains or lines available

References

• Original: J:330171 Stevens TL, et al., Humanized Dsp ACM Mouse Model Displays Stress-Induced Cardiac Electrical and Structural Phenotypes. Cells. 2022 Sep 29;11(19)
• All: 1 reference(s)