The sks mutation causes developmental fusions in the axial skeleton and both female and male sterility, with spermatogenesis arrested at the pachytene stage.Read More +
Mice homozygous for the skeletal fusions with sterility (sks) mutation can often be identified a few days after birth by their shorter overall body length and kinks in the tail. Vertebral fusions are usually found in the thoracic vertebrae, lumbar vertebrae and cervical vertebrae, and bilateral or unilateral fusions of the ribs also occur. Both male and female homozygotes are sterile. Spermatogenesis is arrested at the pachytene stage.
The mutation skeletal fusions with sterility (sks) arose spontaneously in 1982 at The Jackson Laboratory in strain A/J when that inbred was at generation F185. Two lines were developed. The first line was continued on the A/J inbred background by simple sibling breeding keeping sks segregating. The second line was outcrossed at F185+4 to the B6C3Fe-a/a F1 hybrid and then maintained by cross-intercross matings using this F1 hybrid for the crosses. When the second line reached N6 it was crossed with the first line, then at F185+11, and the resulting strain was then maintained by sibling breeding with sks segregating. In 1992 embryos were cryopreserved from matings of untested (+/?) females with heterozygous males with the generation of the last common parent being F5.
|Allele Name||skeletal fusions with sterility|
|Gene Symbol and Name||Ndc1, NDC1 transmembrane nucleoporin|
|Strain of Origin||A/J|
|Molecular Note||A GG to TT substitution was found in exon 6 in a putative exonic splicing enhancer motif. As a result, the 109-bp sequence corresponding to exon 6 was deleted in mutant mice. This deletion creates a frameshift mutation resulting in premature termination at codon 225. Western blot analysis confirmed that no mature protein product was produced.|
When using the skeletal fusions with sterility mouse strain in a publication, please cite the originating article(s) and include JAX stock #001432 in your Materials and Methods section.