Mice heterozygous for the elliptic mutation display a moderate circling phenotype indicative of a vestibular defect. Consistent with this, they have difficulty orienting in water. Despite the vestibular defect, no hearing deficit was found in heterozygotes assessed by ABR at 1, 2, or 3 months of age. Homozygotes on a mixed B6;D2 background are viable and fertile and also display the same circling phenotype. This dominant heritable phenotype has incomplete penetrance, generating approximately 30% mutants from C57BL/6J x heterozygote crosses. This mutation has been mapped to an interval of Chromosome 16 between D16Mit138 and D16Mit140.
The dominant mutation elliptic arose spontaneously in the C57BL/6J strain and was maintained coisogenic on this background. Sperm was cryopreserved from homozygous males at generation N16F4.
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Ept, elliptic|
|Strain of Origin||C57BL/6J|
|Molecular Note||This spontaneous heritable phenotype has been mapped to an interval between D16Mit138 and D16Mit140|