Phenotypes Associated with This Genotype

Genotype
MGI:5648371

• 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