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Allele : Dmd<em4Eno> dystrophin, muscular dystrophy; endonuclease-mediated mutation 4, Eric N Olson

Primary Identifier  MGI:6438148 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Dmd
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a 908 bp deletion that eliminated exon 44, producing a premature stop codon in exon 45. This is one of the most common deletions responsible for Duchenne muscular dystrophy in humans. RT-PCR and product sequencing confirmed the deletion of exon 44. Western blot analysis confirmed the absence of protein.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • deltaEx44,
  • deltaEx44
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

5 Publication categories

Trail: Allele