Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23v-2J) show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Homozygous mutant mice are very similar to the other waltzer mutants (Cdh23v and Cdh23v-J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (v/+ Myo7ash1/+) are deaf beginning at 3 to 6 months. Double heterozygotes have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.
The waltzer 2 Jackson mutation arose spontaneously at The Jackson Laboratory in 1995 in the B6.V-Lepob/J strain (stock #000632) when that congenic was at generation N18. This mutation was bred away from the obese-bearing strain by 2 cycles of backcross-intercross mating of ovarian transplanted hosts bred to C57BL/6J. The colony was then maintained by sibling intercrossing heterozygotes to homozygotes for 17 generations before backcrossing a homozygous male to a C57BL/6J female to genetically refresh to the inbred background. The strain was then maintained by sibling intercross for 3 generations before again backcrossing a homozygous male to C57BL/6J and has been maintained by sibling intercross of heterozygous females with homozygous males since then.
|Allele Name||waltzer 2 Jackson|
|Allele Type||Spontaneous (Hypomorph)|
|Gene Symbol and Name||Cdh23, cadherin 23 (otocadherin)|
|Strain of Origin||C57BL/6J|
|Molecular Note||A G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that multiple aberrant transcripts were produced from this allele which introduce premature stop codons. However, a small amount of normally processed transcripts (about 4% of total) are expressed.|
When using the waltzer 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002552 in your Materials and Methods section.