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Allele : Acta2<em1Dmmz> actin alpha 2, smooth muscle, aorta; endonuclease-mediated mutation 1, Dianna M Milewicz

Primary Identifier  MGI:7612356 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Null/knockout Gene  Acta2
Strain of Origin  C57BL/6NJ Is Recombinase  false
Is Wild Type  false
molecularNote  Arginine codon 149 (CGT) in exon was changed to cysteine (TGT) (p.R149C) using an sgRNA (targeting TGGACGTACAACTGGTAGGTGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with heritable thoracic aortic disease (HTAD).
  • mutations:
  • Single point mutation
  • synonyms:
  • Acta2<R149C>,
  • Acta2<R149C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories