| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:230029 |
| Mgi Id | MGI:5755290 | Citation | Harris BS, et al. (2016) The dominant short tail 2 Jackson mutation. MGI Direct Data Submission |
| abstractText | The dominant short tail 2 Jackson mutation, Rpl31<Dts-2J>, arose spontaneously in the strain B6.Cg-Rag1<tm1Mom> Fcgrt<tm1Dcr> Tg(CAG-FCGRT)276Dcr/Dcr. Heterozygotes have a shortened, kinked tail. There is variable expressivity in the length of the tail and the number of kinks, with the tail length varying from one-quarter normal length to three-quarters normal length. Backcrossing to C57BL/6J removed the other alleles and permitted mapping of this mutation to Chromosome 1. Whole exome sequencing identified a 4 base pair deletion of AAAT in Chromosome 1 from position 39,371,346 bp to position 39,371,349 bp (GRCm38) in the 3-prime UTR of Rpl31. This strain has normal fertility and lifespan and approximately 50% of the offspring from heterozygote x C57BL/6J backcrosses have the mutant phenotype, indicating full penetrance. Hearing was assessed by auditory brainstem response testing in 3 carriers at 5 weeks of age and found to be normal. |
