Phenotypes Associated with This Genotype

Genotype
MGI:5897680

• Allelic Composition: Sox10^Dom/Sox10⁺
• Genetic Background: C57BL/6J-Sox10^Dom

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

aganglionic megacolon ( J:165146 )

• mice with severe megacolon display regional increases in myofibroblast-like cells and decreases in glia

nervous system

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

abnormal enteric nervous system morphology ( J:165146 )

• decreased numbers of neuronal progenitor cells in the foregut at E13.5

• Background Sensitivity: increase in the number of myofibroblast-like cells compared to wild-type mice and heterozygous mice on a congenic C3Fe mice

abnormal enteric ganglia morphology ( J:165146 )

• abnormal patterning of the ganglion network in some mice at E13.5

• decreased density of enteric ganglia

• Background Sensitivity: ganglia are sparser in congenic B6 mice compared to congenic C3Fe mice

• large areas are devoid of normal enteric ganglia and instead contain large numbers of myofibroblast-like cells

embryo

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more neuronal and fewer glial, myofibroblast and mixed glial and myofibroblast colonies

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

cellular

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more neuronal and fewer glial, myofibroblast and mixed glial and myofibroblast colonies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 4C		DOID:0110955	OMIM:613266	J:165146