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Allele : Otof<tm1Ugds> otoferlin; targeted mutation 1, Unite de Genetique des Deficits Sensoriels

Primary Identifier  MGI:3640614 Allele Type  Targeted
Attribute String  Null/knockout Gene  Otof
Inheritance Mode  Recessive Transmission  Germline
Strain of Origin  129S2/SvPas Is Recombinase  false
Is Wild Type  false
molecularNote  Exons 14 and 15, encoding most of the C2C domain of the protein, have been deleted. RT-PCR analysis of cochleae of homozygous mutant mice confirmed the presence of an mRNA lacking the sequence encoded by the deleted exons. Translation of this mRNA would be frame-shifted, leading to a premature termination codon; absence of the expected truncated protein in homozygous mutant cochleae was demonstrated by immunohistolabeling and immunoblot analysis.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Otof<->,
  • Otof<->
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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

16 Publication categories

Trail: Allele