|  Help  |  About  |  Contact Us

Allele : Dsp<em1Melr> desmoplakin; endonuclease-mediated mutation 1, Mona El Refaey

Primary Identifier  MGI:7464254 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Dsp
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Dsp<R451G>,
  • Dsp<R451G>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele