This G304R point substitution provides a very mild allele compared with other mutations in this gene, but still provides a model for autosomal recessive spondylocostal dysostosis 1.Read More +
There is a small possibility that this stock may still be segregating for a recessive mutation that causes trembling ataxia and premature death
Mice homozygous for the pudgy 2 Jackson mutation have kinked or curly tails. Some may have shortened bodies or slightly shortened legs, but this phenotype is less severe than that caused by other alleles of this gene.
The pudgy 2 Jackson mutation arose spontaneously in the lethal trembler mutant line, which arose in the B6CBA-Tg(HDexon1)62Gpb/1J strain. The Tg(HDexon1)62Gpb was bred out of this mutant line before the pudgy 2 Jackson phenotype arose, and sperm was cryopreserved from pudgy 2 Jackson homozygous males after 2 sibling intercrosses in which the lethal trembler phenotype was not detected. Thus, the cryopreserved bankstock may still carry the recessive lethal trembler mutation.
|Allele Name||pudgy 2 Jackson|
|Allele Type||Spontaneous (Hypomorph)|
|Gene Symbol and Name||Dll3, delta like canonical Notch ligand 3|
|Strain of Origin||C57BL/6 or CBA|
|Molecular Note||This C-to-T transition at chromosome 7 position 28,296,465 bp (GRCm38) results in a p.G304R mutation.|