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Allele : Tfap2b<em2Sleep> transcription factor AP-2 beta; endonuclease-mediated mutation 2, Yu Hayashi

Primary Identifier  MGI:7627104 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tfap2b
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  A G>C mutation (c.822-1G>C) was created in intron 4 using an sgRNA (equivalent to TTTTCGATTTGGCTCTGCAG) and an ssODN template with CRISPR/Cas9 technology. The mutation, which changes exon 5 splice acceptor site CAG to CAC, is the equivalent of the same human mutation associated with short sleep in a Char syndrome patient. Transcription from this allele is very low and splicing is aberrant.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tfap2b<K145>,
  • Tfap2b<K145>
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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

3 Publication categories