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Allele : Actn2<em1Kage> actinin alpha 2; endonuclease-mediated mutation 1, Katja Gehmlich
Primary Identifier  MGI:7482516 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Actn2
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a methionine to threonine substitution at amino acid 228 (p.M228T). Three silent base pair changes were also introduced to create an Hgal restriction site for genotyping. p.M228T is a missense variant identified in the actin-binding domain in patients with hypertrophic cardiomyopathy.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Actn2 p.Met228Thr,
  • Actn2 p.Met228Thr
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories





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