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Allele : Etv6<em1Ccpo> ets variant 6; endonuclease-mediated mutation 1, Christopher C Porter

Primary Identifier  MGI:7572876 Allele Type  Endonuclease-mediated
Attribute String  Dominant negative, Humanized sequence Gene  Etv6
Is Recombinase  false Is Wild Type  false
molecularNote  Proline codon 216 (CCA) in exon 5 was changed to leucine (CTA) (p.P216L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.P214L (c.641C>T) mutation associated with the autosomal dominant syndrome of thrombocytopenia and leukemia predisposition.
  • mutations:
  • Single point mutation
  • synonyms:
  • Etv6<mt>,
  • Etv6<mt>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele