Otof^deaf5Jcs
Chemically induced Allele Detail

Summary

• Symbol: Otof^deaf5Jcs
• Name: otoferlin; deaf 5, John C Schimenti
• MGI ID: MGI:3712927
• Gene: Otof Location: Chr5:30524406-30619276 bp, - strand Genetic Position: Chr5, 16.48 cM, cytoband B1
• Alliance: Otof^deaf5Jcs page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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. (J:125960)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Otof Mutation: 108 strains or lines available

References

• Original: J:100332 Wilson L, et al., Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Genome Res. 2005 Aug;15(8):1095-105
• All: 8 reference(s)