These mice carry an ENU-induced mutation and are characterized by deafness.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
Routine examination for auditory function at 4-5 weeks of age revealed the mutants to be deaf. Acoustic startle response and Auditory brain stem recordings yielded no response at every frequency and intensity tested (click, 8, 16, 32 Hz at 30-90 dB). Standard pathology work-up on two mutants (46 or 80 days of age) showed no abnormalities. Serial sections of the ears of the younger mutant showed some slight loss of hair cells in the left ear; whole-mount ear exam performed on the older mutant showed the presence of otoconia and no abnormalities. Mutants of either gender have been produced and the colony is maintained through homozygous breeding.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||neuroscience mutagenesis facility, 329|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Cldn9, claudin 9|
|Strain of Origin||C57BL/6J|
|Molecular Note||This mutation was discovered in an ENU mutagenesis screen. A T-to-C single nucelotide substitution in codon 35 is predicted to change the 35th amino acid of the encoded protein from phenylalanine (Phe) to leucine (Leu), located in the first predicted extracellular loop. Immunohistochemistry experiments with a polyclonal antibody that recognizes the unique C-terminus of the protein showed that the mutant protein is expressed in a spatiotemporal manner similar to the normal protein.|