| First Author | Gagnon LH | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:239807 |
| Mgi Id | MGI:5829779 | Citation | Gagnon LH, et al. (2017) The spontaneous dominant mutation elliptic (Ept). MGI Direct Data Submission |
| abstractText | The dominant mutation elliptic (Ept) arose spontaneously in the C57BL/6J strain and causes heterozygotes to display a moderate circling phenotype indicative of a vestibular defect. Heterozygotes also have difficulty orienting in water and when at the surface they swim in circles. However, auditory brainstem response analysis at 1, 2, and 3 months of age did not find abnormal hearing loss. Neither whole mounts nor H&E stained serial cross sections of the inner ear showed any abnormalities and a gross pathological screen also found no abnormalities. Outcrossing of heterozygotes to C57BL/6J proved this mutation dominant, and also showed incomplete penetrance, with only 45 mutants found in 138 offspring (32% penetrance of phenotype). In the F2 population from a cross to DBA/2J, homozygotes were found to be viable, fertile, and to have no additional phenotype compared with heterozgyotes on the C57BL/6J coisogenic background. Using 107 N2 progeny from (C57BL/6J-Ept x DBA/2J)F1 backcrossed to C57BL/6J this mutation was mapped to an interval between D16Mit138 and D16Mit140. High throughput exome sequencing did not identify the causative mutation and targeted analysis of mutant cDNA PCR product by temperature gradient capillary electrophoresis for possible candidate genes EphA6, Col8a1 and EphA3 also failed to identify any mutation. |
