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Allele : Otof<tm2Ugds> otoferlin; targeted mutation 2, Unite de Genetique des Deficits Sensoriels

Primary Identifier  MGI:6466542 Allele Type  Targeted
Attribute String  Modified isoform(s) Gene  Otof
Transmission  Germline Strain of Origin  129S1/SvImJ
Is Recombinase  false Is Wild Type  false
molecularNote  Two missense mutations were generated in exon 15 that result in the alteration of codons 515 and 517 to endode alanine instead of aspartic acid.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Otof<Ala515,Ala517>,
  • Otof<Ala515,Ala517>,
  • Otof<C2C>,
  • Otof<C2C>
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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

5 Publication categories

Trail: Allele