Phenotypes associated with this allele

• Allele Symbol: Sox10^gt
• Allele Name: gray tremor
• Allele ID: MGI:1856893
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox10^gt/Sox10^gt	GT/Le	MGI:5648371
hm2	Sox10^gt/Sox10^gt	involves: C57BL/6 * GT/Le	MGI:5648379
hm3	Sox10^gt/Sox10^gt	involves: HYIII/LeJ	MGI:3052642
ht4	Sox10^gt/Sox10^+	GT/Le	MGI:5648380
ht5	Sox10^gt/Sox10^+	involves: HYIII/LeJ	MGI:3052650
ht6	Sox10^gt/Sox10^tm1Weg	involves: 129S1/Sv * 129X1/SvJ * GT/Le	MGI:5648383

Genotype
MGI:5648371

hm1

• Allelic Composition: Sox10^gt/Sox10^gt
• Genetic Background: GT/Le

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

Dilution of pheomelanin in coat hairs, white forehead blaze, white belly and feet, megacolon, vacuolation in the brain, and gliosis in mgi:1856893/mgi:1856893 mice

mortality/aging

premature death ( J:216967 )

• most mice die by 3-4 weeks of age

digestive/alimentary system

megacolon ( J:216967 )

• pups develop mild to severe megacolon, with incomplete penetrance

integument

diluted coat color ( J:216967 )

• pheomelanin (yellow pigment) in coat hairs is diluted

head blaze ( J:216967 )

• white forehead blaze is seen in the skin before hair is present

• Background Sensitivity: size and position of forehead blaze is very consistent on the GT/Le background unlike on a mixed background

belly spot ( J:216967 )

• lack pigment on the belly

decreased foot pigmentation ( J:216967 )

• lack of pigment on the feet

non-pigmented tail tip ( J:216967 )

• lack of pigment on the tail tip

limbs/digits/tail

non-pigmented tail tip ( J:216967 )

• lack of pigment on the tail tip

behavior/neurological

tremors ( J:216967 )

• whole body tremor begins around 8 days of age

nervous system

brain vacuoles ( J:216967 )

• widespread vacuolation is seen in the brains of 3 week old mice from a colony free of mouse viral pathogens; cerebellar white matter, pons, midbrain, thalamus, caudate putamen, hippocampus, corpus callsoum, and olfactory bulb are most affected

• vacuoles in the brain are first seen in the pons and cerebellar white matter at P9, then appear in the medial cerebellar nucleus, midbrain, and thalamus between P10 and P12, arise in the substantia nigra, caudate putamen, corpus callosum, lateral olfactory tract and olfactory bulb, predominantly in white matter tracts between P12-P15, and in the hippocampus and cortex by P18

• a rapid increase in vacuole size and number is seen in all affected brain regions with age

gliosis ( J:216967 )

• extensive gliosis in vacuolated areas of the pons and thalamus of P21 mice

spongiform encephalopathy ( J:216967 )

• widespread vacuolation is seen in the brains of 3 week old mice from a colony free of mouse viral pathogens; cerebellar white matter, pons, midbrain, thalamus, caudate putamen, hippocampus, corpus callsoum, and olfactory bulb are most affected

dysmyelination ( J:216967 )

• homozygous mutant mice produce at least some myelin components, but the ability to generate mature myelin is impaired

pigmentation

diluted coat color ( J:216967 )

• pheomelanin (yellow pigment) in coat hairs is diluted

head blaze ( J:216967 )

• white forehead blaze is seen in the skin before hair is present

• Background Sensitivity: size and position of forehead blaze is very consistent on the GT/Le background unlike on a mixed background

belly spot ( J:216967 )

• lack pigment on the belly

decreased foot pigmentation ( J:216967 )

• lack of pigment on the feet

non-pigmented tail tip ( J:216967 )

• lack of pigment on the tail tip

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
PCWH syndrome		DOID:0090111	OMIM:609136	J:216967

Genotype
MGI:5648379

hm2

• Allelic Composition: Sox10^gt/Sox10^gt
• Genetic Background: involves: C57BL/6 * GT/Le

Hypomyelination in Sox10^gt/Sox10^gt brains

behavior/neurological

seizures ( J:216967 )

• rare survivors are seizure-prone and die suddenly

integument

head blaze ( J:216967 )

• Background Sensitivity: mice show a white forehead blaze that is often positioned further back on the body, present as one or more stripes, or absent altogether compared to mice on the GT/Le background which show a consistent size and position of the forehead blaze

mortality/aging

premature death ( J:216967 )

• rare survivors are seizure-prone and die suddenly

nervous system

seizures ( J:216967 )

• rare survivors are seizure-prone and die suddenly

abnormal myelination ( J:216967 )

• Luxol fast blue staining is almost undetectable in brains, indicating that myelination is severely disrupted

pigmentation

head blaze ( J:216967 )

• Background Sensitivity: mice show a white forehead blaze that is often positioned further back on the body, present as one or more stripes, or absent altogether compared to mice on the GT/Le background which show a consistent size and position of the forehead blaze

Genotype
MGI:3052642

hm3

• Allelic Composition: Sox10^gt/Sox10^gt
• Genetic Background: involves: HYIII/LeJ

mortality/aging

premature death ( J:7723 )

• average life span is 90 days; longer on heterogeneous background and may reproduce

pigmentation

darkened coat color ( J:7723 )

• appears uniform gray

head blaze ( J:7723 )

belly spot ( J:7723 )

absent skin pigmentation ( J:7723 )

• light ears are evident by postnatal day 3

• white feet and tail

behavior/neurological

tremors ( J:7723 )

• coincident with movement

sporadic seizures ( J:7723 )

• follow movement tremors

digestive/alimentary system

abnormal digestive system physiology ( J:7723 )

• at 3 weeks of age, mice present with abdominal distention due to intestinal gas, and watery feces

nervous system

sporadic seizures ( J:7723 )

• follow movement tremors

spongiform encephalopathy ( J:7723 )

• severe vacuolation of gray (in neuropil) and white matter

• seen as early as 7 days of age

• vacuolation of white matter begins in spinal cord and follows in gray matter of brainstem, thalamus, and spinal cord

• superficial cerebral cortex, cerebellar cortex, and retina are not affected

demyelination ( J:7723 )

• hypo- and dysmyelination is found

• delayed and hypomyelination found especially at root entry zones

• dysmyelination occurs as multiple exons enclosed in a single myelin sheath

integument

darkened coat color ( J:7723 )

• appears uniform gray

head blaze ( J:7723 )

belly spot ( J:7723 )

absent skin pigmentation ( J:7723 )

• light ears are evident by postnatal day 3

• white feet and tail

Genotype
MGI:5648380

ht4

• Allelic Composition: Sox10^gt/Sox10⁺
• Genetic Background: GT/Le

nervous system

brain vacuoles ( J:216967 )

• mild vacuolation, predominately in cerebellar, hindbrain, and thalamic white matter, is seen after 7 months of age

Genotype
MGI:3052650

ht5

• Allelic Composition: Sox10^gt/Sox10⁺
• Genetic Background: involves: HYIII/LeJ

nervous system

spongiform encephalopathy ( J:7723 )

• mild to moderate, asymptomatic, vacuolation found in gray matter by 59 days of age and older

Genotype
MGI:5648383

ht6

• Allelic Composition: Sox10^gt/Sox10^tm1Weg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * GT/Le

Lack of pigmentation and megacolon in Sox10^gt/Sox10^tm1Weg pups

mortality/aging

postnatal lethality, complete penetrance ( J:216967 )

• mice survive to birth but most die within 4-5 days after birth

digestive/alimentary system

megacolon ( J:216967 )

• all mice develop severe and fatal megacolon

integument

absent coat pigmentation ( J:216967 )

• mice have pigmented eyes but white fur

nervous system

brain vacuoles ( J:216967 )

pigmentation

absent coat pigmentation ( J:216967 )

• mice have pigmented eyes but white fur

decreased melanocyte number ( J:216967 )

• lack of skin melanocytes