| First Author | Gagnon LH | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:239145 |
| Mgi Id | MGI:5825363 | Citation | Gagnon LH, et al. (2017) The pinwheel mutation. MGI Direct Data Submission |
| abstractText | The recessive pinwheel mutation (pwhl) arose spontaneously in the B6SJL-Tg(SOD1*G93A)1Gur/J strain at The Jackson Laboratory. The transgene was eliminated from the colony by outcrossing to C57BL/6J mice and breeding selectively, and this mutation was subsequently backcrossed onto the C57BL/6J background. Homozygotes display moderate bidirectional circling and difficulty orienting in water to swim, indicative of a vestibular defect, yet auditory brainstem response analysis did not detect any hearing loss relative to age-matched controls. To map this mutation homozygotes were bred to CAST/EiJ and the F1 offspring were backcrossed to homozygous mutants. Linkage analysis using 82 homozygotes from this population placed the mutation between D4Mit170 and D4Mit33, an interval of approximately 12 Mb, with no recombinants found with the markers D4Mit64, D4Mit284, and D4Mit310. This interval includes Epha2 but excludes Ephb2. No mutations were detected in the candidate genes Epha2 (sequencing and Southern blot analysis), Dhrs3 (sequencing and QRT-PCR analysis), or Slc25a34 (QRT-PCR analysis). Exome sequencing also failed to identify a causative sequence variation for the pinwheel mutation. It should be noted that when the obligate heterozygotes generated by outcrossing to CAST/EiJ were intercrossed only 2 mutants were detected in 100 mice of this F2 population. |
