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Allele : Mafb<em1Staka> MAF bZIP transcription factor B; endonuclease-mediated mutation 1, Satoru Takahashi

Primary Identifier  MGI:6401825 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Mafb
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a CG to TT change at position 176-177 in the acidic transactivation domain, resulting in a proline to leucine substitution at amino acid 59. In addition, a C to T change at position 174 resulting in a synonymous substitution was included to increase the induction efficiency of the P59L mutation. The P59L mutation is identified in patients with multicentric carpotarsal osteolysis syndrome.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Mafb<MCTO>,
  • Mafb(P59L),
  • Mafb<MCTO>,
  • Mafb(P59L)
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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

3 Publication categories

Trail: Allele