Like other Lyst mutants, Lystbg-18J homozygotes have a diluted coat color that is dark gray on a nonagouti background. These mice provide a model for Chediak-Higashi syndrome.
The beige 18 Jackson mutation arose spontaneously in the BKS.Cg-Dock7m +/+ Leprdb/J strain at The Jackson Laboratory. This G to A point substitution in the splice donor site in intron 10 was backcrossed onto C57BL/6J for 5 generations in the laboratory of Dr. Bo Chang and then sibling intercrossed to homozygosity, reaching generation N5F15 in 2019.
|Allele Name||beige 18 Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Lyst, lysosomal trafficking regulator|
|Strain of Origin||BKS.Cg-Dock7m +/+ Leprdb/J|
|Molecular Note||A spontaneous G-to-A point transition in the fifth base of intron 10 near the splice donor site is predicted to cause skipping of exon 10 and a frameshift that creates a premature stop codon.|