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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10Dom mutation (1 available); any Sox10 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice with severe megacolon display regional increases in myofibroblast-like cells and decreases in glia

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

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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory