| First Author | Gray SJ | Year | 2019 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:278662 |
| Mgi Id | MGI:6359814 | Citation | Gray SJ, et al. (2019) The deaf circler 4 Jackson spontaneous mutation. MGI Direct Data Submission |
| abstractText | The deaf circler 4 Jackson mutation arose spontaneously on the 129P3/J inbred background at The Jackson Laboratory. Homozygotes display circling and side-to-side head shaking behavior and complete deafness at one month of age. A 10-week-old heterozygote was also found to have slightly elevated ABR thresholds at 32kHz. Homozygotes fail to orient in water to swim and instead roll underwater. An outcross to C57BL/6J showed no circling phenotype in the F1 hybrids, but the phenotype reappeared in the F2 population. Allele tests with dreher 10 Jackson and waltzer 2 Jackson yielded no mutants but 8 of 18 pups born from the cross of a homozygous mutant with a deaf circler (Ush1c<sup>dfcr</sup>) heterozygous female displayed the circling/head shaking phenotype proving this an allele of Ush1c. This mutation provides a model for autosomal recessive nonsyndromic deafness 18A and Usher syndrome type 1C. |
