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Allele : Otof<deaf5Jcs> otoferlin; deaf 5, John C Schimenti

Primary Identifier  MGI:3712927 Allele Type  Chemically induced (ENU)
Gene  Otof Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  ENU treatment caused a T-to-A substitution in exon 10, changing isoleucine codon 318 (ATC) to asparagine (AAC) (c.953T>A, p.I318N). The encoded amino-acid is a highly conserved residue of the C2B protein domain and immunohistochemistry of the cochlea fails to detect this protein.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

10 Publication categories