The ENU induced mutation in these mice results in the absence otoferlin.
Expression of the otoferlin gene is not detected in these mutant mice, indicating that this missense mutation has a severe effect on the stability of the protein and potentially its localization. Auditory brainstem response analysis demonstrated that mice homozygous for the missense mutation are profoundly deaf, consistent with an essential role for otoferlin in inner hair cell neurotransmission. Vestibular-evoked potentials of mutant mice, however, is equivalent to those of wildtype mice, indicating that otoferlin is unnecessary for vestibular function even though it is highly expressed in both vestibular and cochlear hair cells.
The deaf5Jcs mutation was generated by ENU mutagenesis of C57BL/6J males, which were then bred with C3HeB/FeJ-Rw/+ females to permit tracking of the mutated male-derived Chromosome 5. The male G1 offspring of this cross were then bred with Rw +/+ Hm females and the non-Hm-bearing Rw/+ offspring, which would carry the Chromosome 5 that was potentially mutagenized in the Rw deletion region, were selected and intercrossed to reveal any recessive mutations. Clickbox screening revealed the deaf5Jcs mutation. A homozygous deaf5Jcs male, on this mixed background of predominantly C57BL/6J and C3HeB/FeJ, was bred to a BALB/cJ female and the resulting offspring were intercrossed. A homozygous male from this STOCK background was sent from Dr. John Schimenti at Cornell University to Dr. Kenneth Johnson at The Jackson Laboratory, and in vitro fertilization was carried out with C3HeB/FeJ females. The line was then sibling inbred and reached generation F5 in 2007.
|Allele Name||deaf 5, John C Schimenti|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Otof, otoferlin|
|Gene Synonym(s)||AUNB1; DFNB6; DFNB9; FER1L2; NSRD9|
|Strain of Origin||C57BL/6J|
|Molecular Note||A T to A base substitution in exon 10 yields an isoleucine to asparagine change in a highly conserved residue of the C2B protein domain and immunohistochemistry of the cochlea fails to detect this protein.|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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