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Allele : Otof<tm2.1Erei> otoferlin; targeted mutation 2.1, Ellen Reisinger

Primary Identifier  MGI:5824015 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Otof
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A double substitution was introduced in an isoleucine codon in exon 14 causing a I514T mutation in the translated peptide. This mimics the mutation that gives rise to a deafness related I515T mutation in the isoform e peptide coded for by the human ortholog. An additional silent mutation was introduced 10 bp upstream of the targeted codon to create a KpnI restriction site for diagnostic purposes. A loxP flanked neomycin resistance gene cassette was inserted into intron 14. The neo cassette was subsequently removed through cre-mediated recombination.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Otof<515T>,
  • Otof<515T>
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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