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Allele : Mafb<em1Hts> MAF bZIP transcription factor B; endonuclease-mediated mutation 1, Hiroyasu Tsukaguchi

Primary Identifier  MGI:6471912 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 T to C point mutation at position 716 (c.716T>C) resulting in a leucine to proline change at amino acid 239 (p.Leu239Pro) using gRNA 5'-TCCGCCGCTTCTGCTTCAGG-3'. Focal segmental glomerulosclerosis affected individuals harbor this rare heterozygous substitution.
  • mutations:
  • Single point mutation
  • synonyms:
  • Mafb<L239P>,
  • Mafb<L239P>
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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

4 Publication categories