Phenotypes Associated with This Genotype

Genotype
MGI:5806872

• Allelic Composition: Tg(Venus/SOX10*)55Kein/0
• Genetic Background: involves: C3H/He * C57BL/6

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

mortality/aging

postnatal lethality ( J:227442 )

• a small proportion of mice with 3 copies of the transgene die around weaning

nervous system

abnormal enteric nervous system morphology ( J:227442 )

• 4% of mice with 2 copies and 14% of mice with 3 copies of the transgene exhibit defects of the nerve plexus, namely hypoganglionosis in the distal part of the large intestine

abnormal submucous nerve plexus morphology ( J:227442 )

• mice with 3 copies of the transgene show less refined Remak bundles at 6 weeks of age

• some Remak bundles are enlarged and the space between axons is occasionally narrower in mice with 3 copies of the transgene

• the median number of axons in a Remak bundle is larger in mice with 3 copies of the transgene, indicating that Remak bundles contain more axons per bundle

abnormal myelin sheath morphology ( J:227442 )

• mice with 3 copies of the transgene show less refined compact myelin sheaths in the sciatic nerve at 6 weeks of age

decreased myelin sheath thickness ( J:227442 )

• persistence of a thinner myelin in the sciatic nerve of mice with 3 copies of the transgene

pigmentation

hypopigmentation ( J:227442 )

• 58% of mice with 2 copies and 81% with 3 copies of the transgene exhibit hypopigmentation of hair color in the forelock and the trunk; this is not seen in mice with one transgene copy

behavior/neurological

circling ( J:227442 )

• 73% of mice with 2 copies and 35% mice with 3 copies of the transgene exhibit rotating behavior

digestive/alimentary system

abnormal large intestine morphology ( J:227442 )

• inflation of the large intestine is seen in dead mice with 3 copies of the transgene

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:227442 )

• auditory threshold is higher in mice with 2 or 3 copies of the transgene, indicating sensory deafness

deafness ( J:227442 )

• mice with 2 or 3 copies of the transgene exhibit sensory deafness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
PCWH syndrome		DOID:0090111	OMIM:609136	J:227442