Phenotypes Associated with This Genotype

Genotype
MGI:4820434

• Allelic Composition: Sox10^{tm7.1(Sox10)Weg}/Sox10^{tm7.1(Sox10)Weg}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

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

mortality/aging

premature death ( J:162692 )

• most mice die by 5 weeks of age

• all mice die by 7 weeks of age

nervous system

abnormal Schwann cell morphology ( J:162692 )

• as determined by marker expression, Schwann cells do not progress beyond the immature stage unlike wild-type cells

• between P8 and P32, the number of Schwann cells in the sciatic nerve is increased slightly compared to in wild-type mice

• Schwann cells contain high amounts of rough endoplasmic reticulum compared to in wild-type mice

increased neuron apoptosis ( J:162692 )

• increased in the sciatic nerve

abnormal neuron proliferation ( J:162692 )

• increased in the sciatic nerve

abnormal sciatic nerve morphology ( J:162692 )

• sciatic nerves are translucent, less well defined, lacks myelination, and lacks the characteristic banded pattern compared with sciatic nerves from wild-type mice

• the number of cells in the sciatic nerve is increased compared to in wild-type mice

• between P8 and P32, the number of Schwann cells in the sciatic nerve is increased slightly compared to in wild-type mice

• from P16 to P32, sciatic nerves contain increased endothelial cells, pericytes, macrophages, T lymphocytes, perineurial cells, endoneurial fibroblast, and adipocytes compared in wild-type mice

• sciatic nerves contain a dense layer of collagen and elastic fibers unlike in wild-type mice

• at P16 and P32, Remak bundles within the sciatic nerve are absent unlike in wild-type mice

• the perineural sheath is thinner than in wild-type mice

abnormal myelination ( J:162692 )

• in the sciatic nerve

abnormal action potential ( J:162692 )

• sciatic nerves compound action potentials lack the fast component unlike in wild-type mice

decreased nerve conduction velocity ( J:162692 )

• in the sciatic nerve

behavior/neurological

tremors ( J:162692 )

• shiverer-type

impaired coordination ( J:162692 )

abnormal limb posture ( J:162692 )

• mice develop a straddled position of the hindlimbs unlike wild-type mice

abnormal locomotor behavior ( J:162692 )

• mice exhibit progressive deterioration of locomotion unlike wild-type mice

abnormal gait ( J:162692 )

• staggering gait

growth/size/body

decreased body weight ( J:162692 )

• beginning at P8

• 52% lighter at P24

• 68% lighter at P32

postnatal growth retardation ( J:162692 )

• mice fail to thrive shortly after birth

cellular

abnormal Schwann cell morphology ( J:162692 )

• as determined by marker expression, Schwann cells do not progress beyond the immature stage unlike wild-type cells

• between P8 and P32, the number of Schwann cells in the sciatic nerve is increased slightly compared to in wild-type mice

• Schwann cells contain high amounts of rough endoplasmic reticulum compared to in wild-type mice

increased neuron apoptosis ( J:162692 )

• increased in the sciatic nerve

abnormal neuron proliferation ( J:162692 )

• increased in the sciatic nerve