| First Author | Johnson KR | Year | 2019 |
| Journal | Direct Data Submission from Genetic Resource Science | Mgi Jnum | J:276827 |
| Mgi Id | MGI:6324030 | Citation | Johnson KR (2019) The spontaneous mutation jitterbug 2 Jackson. Direct Data Submission from Genetic Resource Science |
| abstractText | In 2005 a spontaneous recessive mutation causing circling and head-bobbing was identified in a C57BL/6J mouse at The Jackson Laboratory. This mutation causes profound deafness, as assessed by ABR at 49 days of age, but whole mount imaging found no abnormalities of the utricle or saccule. In a swim test, homozygotes were found to swim at the surface, but in circles. In allele tests this mutation complemented Myo6<sup>sv-2J</sup>, and Pcdh15<sup>av-3J</sup>, but not Clic5<sup>jbg</sup> or Clic5<sup>nmf318</sup>, proving this an allele of Clic5. This allele was designated Clic5<sup>jbg-2J</sup>, jitterbug 2 Jackson. Sequence analysis identified a 6,908 bp deletion from Chr 17:44240906 to Chr 17:44247814 (GRCm38) encompassing exon 3, which results in an in-frame transcript lacking the 42 amino acids encoded by this exon (KPADLHNLAPGTHPPFLTFNGDVKTDVNKIEEFLEETLTPEK |
