Phenotypes Associated with This Genotype

Genotype
MGI:5552014

• Allelic Composition: Sox10^Dom/Sox10^Dom
• Genetic Background: involves: C3HeB/FeJLe * C57BL/6JLe

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

embryo

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5

absent enteric neural crest cell ( J:67383 )

• absence of enteric neural crest cells

pigmentation

abnormal melanocyte differentiation ( J:45117 )

• absence of cells expressing markers of early melanoblasts indicating a defect in melanocyte development at E10.5 and E11.

nervous system

absent enteric neural crest cell ( J:67383 )

• absence of enteric neural crest cells

abnormal sympathetic ganglion morphology ( J:67383 )

• the most anterior sympathetic ganglion is small at E12.5

abnormal superior cervical ganglion morphology ( J:67383 )

• satellite cells are absent in the superior cervical ganglion

abnormal PNS glial cell morphology ( J:67383 )

• B-FABP-positive cells (peripheral glia) are not seen in the dorsal root ganglia or along the spinal nerves at E11.5 or E12.5

• differentiation of peripheral glial cells is arrested at a very early stage

abnormal Schwann cell morphology ( J:67383 )

• peripheral nerves lack Schwann cell nuclei at E12.5 and contain essentially only naked axons that are smaller in diameter than in controls

• Schwann cell precursors along the projections of sensory and motoneurons do not form

motor neuron degeneration ( J:67383 )

• degeneration of motoneurons; number of motoneurons are somewhat reduced on cervical, but not on thoracic or lumbar, axial levels at E15.5 and by E18.5, significant loss of notoneurons is seen on cervical and lumbar axial levels

abnormal sensory neuron morphology ( J:67383 )

• degeneration of sensory and sympathetic neurons

abnormal cranial ganglia morphology ( J:67383 )

• only remnants of cranial ganglia and their projections are seen

abnormal nodose ganglion morphology ( J:67383 )

• satellite cells are absent in the nodose ganglion

abnormal dorsal root ganglion morphology ( J:67383 )

• dorsal root ganglia form broad fusions with the lateral neural tube, which contain, inappropriately, neurons

dorsal root ganglion degeneration ( J:67383 )

• severe degeneration of neurons in dorsal root ganglia that is detectable at E11.5 on lumbar axial levels and affects the majority of neurons at E12.5

• very few cells are seen in the remnants of lumbar dorsal root ganglia at E18.5

small dorsal root ganglion ( J:45117 )

• in embryos

abnormal spinal nerve morphology ( J:67383 )

• marked reduction in size of the intercostal nerve at E12.5

abnormal ventral spinal root morphology ( J:67383 )

• neuronal perikarya are seen in the ventral roots of spinal nerves

cellular

abnormal melanocyte differentiation ( J:45117 )

• absence of cells expressing markers of early melanoblasts indicating a defect in melanocyte development at E10.5 and E11.

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5