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Symbol
Name
ID

Sox10
SRY (sex determining region Y)-box 10
MGI:98358

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Anosmia

Torticollis

Aganglionic megacolon

Long-segment aganglionic megacolon

Short-segment aganglionic megacolon

Spasticity

Spastic paraparesis

Spastic tetraplegia

Cerebral dysmyelination

Cerebral hypomyelination

Dysmyelinating leukodystrophy

Peripheral demyelination

Myelin outfoldings

Peripheral hypomyelination

Demyelinating peripheral neuropathy

Cerebral atrophy

Ataxia

Myoclonus

Abnormal pyramidal sign

Absent brainstem auditory responses

Decreased nerve conduction velocity

Intellectual disability

Coma

Areflexia

Hyporeflexia

Global developmental delay

Peripheral neuropathy

Seizure

Distal sensory impairment

Abnormal autonomic nervous system physiology

Disease(s) Associated with SOX10

PCWH syndrome

Waardenburg syndrome type 2E

Waardenburg syndrome type 4C

Mouse Phenotypes

nervous system phenotype

seizures

sporadic seizures

increased neuron apoptosis

abnormal axon fasciculation

abnormal axon guidance

abnormal neuron proliferation

abnormal neural crest morphology

abnormal enteric neural crest cell morphology

absent enteric neural crest cell

abnormal melanoblast morphology

abnormal nervous system morphology

abnormal enteric nervous system morphology

abnormal enteric ganglia morphology

abnormal enteric neuron morphology

abnormal parasympathetic ganglion morphology

abnormal sympathetic ganglion morphology

abnormal superior cervical ganglion morphology

abnormal olfactory bulb morphology

brain vacuoles

abnormal glial cell morphology

decreased oligodendrocyte number

abnormal PNS glial cell morphology

abnormal Schwann cell morphology

decreased Schwann cell number

absent Schwann cells

gliosis

motor neuron degeneration

abnormal axon morphology

abnormal sensory neuron morphology

abnormal cranial ganglia morphology

abnormal nodose ganglion morphology

abnormal dorsal root ganglion morphology

dorsal root ganglion degeneration

small dorsal root ganglion

dorsal root ganglion hypoplasia

abnormal spinal nerve morphology

abnormal sciatic nerve morphology

abnormal ventral spinal root morphology

spongiform encephalopathy

abnormal Schwann cell physiology

abnormal oligodendrocyte physiology

abnormal myelination

demyelination

dysmyelination

abnormal action potential

decreased nerve conduction velocity

Availability

Mouse Genotype

Sox10^Dom/Sox10^Dom

Sox10^gt/Sox10^gt

Sox10^tm1Weg/Sox10^tm1Weg

Sox10^tm3(Sox8)Weg/Sox10^tm3(Sox8)Weg

*

Sox10^tm4Weg/Sox10^tm4Weg

*

Sox10^tm8.1Weg/Sox10^tm8.1Weg

Sox10^Dom/Sox10⁺

!

!

Sox10^Dom/Sox10⁺
Tg(DBHn-lacZ)8Rpk/0

!

Sox10^gt/Sox10⁺

Sox10^gt/Sox10^tm1Weg

Sox10^tm1Weg/Sox10⁺

Sox10^tm8.1Weg/Sox10⁺

Sox10^{tm7.1(Sox10)Weg}/Sox10^{tm7.1(Sox10)Weg}
Tg(Dhh-cre)1Mejr/0 (conditional)

Sox10^{tm7.1(Sox10)Weg}/Sox10^{tm7.1(Sox10)Weg}
Tg(Pou3f4-cre)32Cren/0 (conditional)

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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