Dsp^em1Fshe
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dsp^em1Fshe
• Name: desmoplakin; endonuclease-mediated mutation 1, Farah Sheikh
• MGI ID: MGI:7310463
• Synonyms: Dsp R315C
• Gene: Dsp Location: Chr13:38335357-38382553 bp, + strand Genetic Position: Chr13, 18.0 cM
• Alliance: Dsp^em1Fshe page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a C to T change resulting in an arginine to cysteine substitution at amino acid 327 (p.R327C) which is equivalent to the human R315C mutation. (J:326270)

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:326270 Liang Y, et al., Desmosomal COP9 regulates proteome degradation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Clin Invest. 2021 Jun 1;131(11)
• All: 1 reference(s)