This spontaneous mutant has the tremor, impaired gait, and male infertility found in other Kcnn2 mutants and is valuable for characterizing the comparative impact of varying mutations in this gene.Read More +
Bouncy 7 Jackson homozygotes are smaller than their heterozygous littermates and are noticeable as early as 2 to 3 weeks of age. They develop a moderate tremor and impaired gait. Despite this, these mice seem to have a normal life span. Light microscopic assessment of the sperm determined that the male mutants have viable sperm, yet they do not breed.
The bouncy 7 Jackson mutation arose spontaneously in the B6.129P2-Apoetm1Unc/J strain at The Jackson Laboratory. After two cycles of backcross-intercross to C57BL/6J this mutant subline was maintained by sibling inbreeding and the Apoetm1Unc mutation was bred out.
|Allele Name||bouncy 7 Jackson|
|Gene Symbol and Name||Kcnn2, potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2|
|Strain of Origin||B6.129P2-Apoetm1Unc/J|
|Molecular Note||This spontaneous A-to-T transition at chromosome 18 position 45,685,419 (GRCm38) causes a nonsense mutation in the fourth exon changing amino acid 528/793/803 from arginine to a stop codon (NP_536713:p.R528*, ENSMUSP00000067884:p.R793*, NP_001299834:p.R803*).|