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Allele : Tcf4<em1Bdph> transcription factor 4; endonuclease-mediated mutation 1, Benjamin D Philpot

Primary Identifier  MGI:6157962 Allele Type  Endonuclease-mediated
Attribute String  Dominant negative Gene  Tcf4
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology was used to introduce a single point mutation, an A-to-T transition at position 1135, resulting in an arginine to tryptophan mutation at amino acid 579 (R579W) that corresponds to the most common Pitt-Hopkins Syndrome mutation in humans R580W.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tcf4<R579W>,
  • Tcf4<R579W>
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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