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Allele : Bcl11a<em2Sho> BCL11 transcription factor A; endonuclease-mediated mutation 2, Stuart Orkin

Primary Identifier  MGI:5828771 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Bcl11a
Transmission  Germline Strain of Origin  129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  The dominant +62 DNase I Hypersensitive Site in a 10kb enhancer region in intron 2 was targeted for deletion with the CRISPR/Cas9 system. In human, mutations in the orthologous enhancer region are associated with various hemoglobin disorders. The gRNA sequences used were 5'-TCGCTGCCTTCAGTTCTGCT-3' and 5'-CTATTTCCATTGGTGGATAC-3'.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • +62DHSdelta,
  • +62DHSdelta
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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

4 Publication categories

Trail: Allele