Phenotypes Associated with This Genotype

Genotype
MGI:3703446

• Allelic Composition: Sox10^tm3(Sox8)Weg/Sox10^tm3(Sox8)Weg
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:119015 )

• fail to thrive and die within 1 week of birth

• however, unlike Sox10 null mice no embryonic or perinatal lethality is seen

growth/size/body

postnatal growth retardation ( J:119015 )

• severe

nervous system

nervous system phenotype ( J:119015 )

N • at E10.5 cranial ganglia are all present and appear normal

N • at E12.5 both gliogenesis and neurogenesis occur normally in dorsal root ganglia

N • development of Schwann cells in the peripheral nerves is normal

abnormal melanoblast morphology ( J:119015 )

• few if any melanoblasts are present at E12.5

abnormal enteric neuron morphology ( J:119015 )

• at E18.5 both the small and large intestines lack enteric neurons and enteric neuronal precursors

• however, the esophagus and stomach have normal appearing entric ganglia and plexus

abnormal sympathetic ganglion morphology ( J:119015 )

• sympathetic ganglia appear slightly smaller and contain fewer Phox2b+ cells

decreased oligodendrocyte number ( J:119015 )

• very few maturing oligodendrocytes are present at E18.5 in the white matter of the spinal cord

• the number of myelinating oligodendrocytes in the white matter of the spinal cord is decreased at P7

pigmentation

absent hair follicle melanin granules ( J:119015 )

• absence of melanin from all hair follicles

absent coat pigmentation ( J:119015 )

embryo

increased vagal neural crest cell apoptosis ( J:119015 )

• increased apoptosis is seen in the area where vagal neural crest cells are found prior to gut colonization

abnormal enteric neural crest cell migration ( J:119015 )

• enteric neural crest cells fail to colonize the fore- and hindgut

abnormal melanoblast morphology ( J:119015 )

• few if any melanoblasts are present at E12.5

integument

absent hair follicle melanin granules ( J:119015 )

• absence of melanin from all hair follicles

absent coat pigmentation ( J:119015 )

cellular

increased vagal neural crest cell apoptosis ( J:119015 )

• increased apoptosis is seen in the area where vagal neural crest cells are found prior to gut colonization

abnormal enteric neural crest cell migration ( J:119015 )

• enteric neural crest cells fail to colonize the fore- and hindgut