Heterozygotes on this nonagouti background have a piebald-like appearance with large patches of white pigment in the coat, white spotting and areas of depigmentation on the tail and feet, and white vibrissae if their growth is from a white patch of the face. Unlike carriers of the Sox1Dom allele these mice have not been found to develop megacolon.
The Sox10M2J mutation arose spontaneously in approximately 2007 in the strain B6Ei.Cg-Nr0b1tm1.1Lja Tg(Sry)2Ei Chr YAKR/Ei in the laboratory of Dr. Eva Eicher at The Jackson Laboratory. Through consecutive backcrosses to C57BL/6JEiJ the Nr0b1tm1.1Lja, Tg(Sry)2Ei and AKR derived Y Chromosome were bred out of this mutant subline. In 2011 sperm was cryopreserved from heterozygous males at generation N8F1.
|Allele Name||mutation 2 Jackson|
|Gene Symbol and Name||Sox10, SRY (sex determining region Y)-box 10|
|Strain of Origin||B6Ei.Cg-Nr0b1tm1.1Lja Tg(Sry)2Ei Chr YAKR/EiJ|
|Molecular Note||A spontaneous T-to-A transition at position 79,163,324 (GRCm38) results in the replacement of asparagine with lysine at residue 131 (p.N131K).|