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Allele : Otof<em1Bros> otoferlin; endonuclease-mediated mutation 1, Nils Brose
Primary Identifier  MGI:7571451 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Otof
Inheritance Mode  Not Specified Strain of Origin  C57BL/6NCrl
Is Recombinase  false Is Wild Type  false
molecularNote  This mouse line was generated by site-directed CRISPR-Cas9 mutagenesis in C57BL/6NCrl mice causing a I1553T mutation (uniprot Q9ESF1-3). This mimics the mutation that gives rise to a deafness related I1573T mutation in the isoform e peptide coded for by the human ortholog. Additional silent mutations were introduced. The mutated exon38 now reads:(5')gtcctttgacattgaggcctccttccccatggagtccatgttgacagtggccgtgtacgactgggatctggtgggcactgatgaTctcaCcggCgaaaccaagattgacctggaaaaccgcttctacagcaagcaCcgcgcAacAtgcggcatcgcacagacctattccat(3').
  • mutations:
  • Single point mutation
  • synonyms:
  • Otof<I1573T>,
  • Otof<em1(I1573T)Bros>,
  • Otof<em1(I1573T)Bros>,
  • Otof<I1573T>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

2 Publication categories

Trail: Allele




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