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Allele : Tbr1<em3Boro> T-box brain transcription factor 1; endonuclease-mediated mutation 3, Brian Oroak

Primary Identifier  MGI:7521957 Allele Type  Endonuclease-mediated
Gene  Tbr1 Strain of Origin  C57BL/6NJ
Is Recombinase  false Is Wild Type  false
molecularNote  Glutamic acid codon 348 through proline codon 353 in exon 4 were deleted (c.1042_1059del, p.E348_P353delEDTSQP) using an sgRNA and an ssODN template with CRISPR/cas9 technology. The mutation is in the T-box and includes five human TBR1 variants identified as pathogenic or likely pathogenic.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Tpr1<delta6aa>,
  • Tpr1<delta6aa>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories