Phenotypes Associated with This Genotype

Genotype
MGI:5552013

• Allelic Composition: Sox10^tm1Weg/Sox10^tm1Weg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:67383 )

• live embryos from the fourth or subsequent generations of backcrosses with C3HeB/FeJ are seen at expected numbers before and at E16.5 but at lower numbers at E18.5 (only 13.9%)

embryo

abnormal neural crest morphology ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ, distribution of neural crest cells at E10.5 is different from that in controls, with reduced numbers in cranial ganglia and along their projections, absence in the gut and reduced numbers in the sympathetic primordium

• at E12.5, severe reduction of neural crest cells along peripheral nerves is seen in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

abnormal melanoblast morphology ( J:67383 )

• marker analysis indicates a severe and early loss of melanoblasts in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

behavior/neurological

unresponsive to tactile stimuli ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ do not move or react to tactile stimulation

abnormal limb posture ( J:67383 )

• abnormal forelimb posture in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

homeostasis/metabolism

cyanosis ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ are cyanotic at birth

nervous system

abnormal neural crest morphology ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ, distribution of neural crest cells at E10.5 is different from that in controls, with reduced numbers in cranial ganglia and along their projections, absence in the gut and reduced numbers in the sympathetic primordium

• at E12.5, severe reduction of neural crest cells along peripheral nerves is seen in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

abnormal melanoblast morphology ( J:67383 )

• marker analysis indicates a severe and early loss of melanoblasts in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

abnormal PNS glial cell morphology ( J:67383 )

• differentiated glia cells are absent in the peripheral nervous system of mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

abnormal dorsal root ganglion morphology ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ, extensive and general apoptosis in dorsal root ganglia is seen at E11.5

pigmentation

decreased melanocyte number ( J:67383 )

• melanocytes are reduced in numbers in mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ

respiratory system

respiratory failure ( J:67383 )

• mice from the fourth or subsequent generations of backcrosses with C3HeB/FeJ do not breathe at birth