Mice homozygous for the spinner 2 Jackson mutation display head tilting and circling and are deaf.
The spinner 2 Jackson mutation arose spontaneously in a congenic transgenic strain that was at N10 on the C57BL/6J background. The strain of origin for the transgene remains unknown. The spinner 2 Jackson mutation was backcrossed further onto C57BL/6J for 3 generations and genotyping confirmed the removal of the transgene from this mutant subline. This strain subsequently has been maintained by intercrossing heterozygotes with homozygotes and reached generation N3F6 in 2008.
|Allele Name||spinner 2 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Tmie, transmembrane inner ear|
|Strain of Origin||C57BL/6J|
|Molecular Note||A G-to A-transition destroys exon 5 splice acceptor site CAG by changing it to CAA, leading to mis-splicing and absence of wild-type transcripts.|