This spontaneous semi-dominant mutant has abnormal development of the axial skeleton, but not the appendicular skeleton, resulting in compressed, misshapen, or fused vertebrae, missing or herniated intervertebral discs, fused or bifurcated ribs, and shortened, sometimes kinked tail.Read More +
Heterozygotes have a shortened, sometimes kinked or stumpy tail, approximately three quarters of an inch, and a compacted body trunk. Homozygotes have a very short, stumpy tail, approximately half and inch or less in length, and a more compacted body trunk. While the appendicular skeleton does not appear affected, compression of cervical, thoracic, lumbar and sacral vertebrae and missing or herniated intervertebral discs are part of the phenotype. The vertebrae can be misshapen, misaligned, or fused and the ribs can be bifurcated or fused. These phenotypes are less severe in the heterozygote.
The semi-dominant compacted skeleton mutation arose spontaneously in 2004 in the strain C3H/HeDiSn-Dscam2J/GrsrJ at The Jackson Laboratory. This mutation was identified by a short tail and compacted body and the phenotype of the Dscam2J homozygote was absent. Two consecutive backcrosses of a mutant to C3H/HeJ were done to breed this semi-dominant mutation away from the parental Dscam2J line and this mutant subline was subsequently maintained by inbreeding heterozygotes to wild-type siblings. In 2011 sperm was cryopreserved from heterozygous males at generation N2F7.
|Allele Name||semi-dominant compacted skeleton|
|Gene Symbol and Name||Scs, semi-dominant compacted skeleton|
|Strain of Origin||C3H/HeDiSn-Dscam2J/GrsrJ|
|Molecular Note||This heritable phenotype arose spontaneously and has been mapped to Chromosome 5.|