All Phenotypes Sox10<Dom> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sox10^Dom
dominant megacolon
MGI:1857401

Summary

18 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJLe * C57BL/6JLe	MGI:5552014
hm2	Sox10^Dom/Sox10^Dom	involves: C57BL/6JLe	MGI:3026743
ht3	Sox10^Dom/Sox10⁺	C3Fe.B6JLe-Sox10^Dom	MGI:5897682
ht4	Sox10^Dom/Sox10⁺	C57BL/6J-Sox10^Dom	MGI:5897680
ht5	Sox10^Dom/Sox10⁺	involves: C3HeB/FeJLe * C57BL/6JLe	MGI:5897676
ht6	Sox10^Dom/Sox10⁺	involves: C57BL/6JLe	MGI:3026747
cx7	Sox10m2^C3HeB/FeJ/Sox10m2^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699591
cx8	Sox10m5^C57BL/6J/Sox10m5^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699601
cx9	Sox10m4^C3HeB/FeJ/Sox10m4^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699600
cx10	Sox10m4^C57BL/6J/Sox10m4^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699599
cx11	Sox10m3^C3HeB/FeJ/Sox10m3^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699598
cx12	Sox10m3^C57BL/6J/Sox10m3^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699597
cx13	Gutl1^C3HeB/FeJ/Gutl1^C3HeB/FeJ Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699623
cx14	Sox10m2^C3HeB/FeJ/Sox10m2^C3HeB/FeJ Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699624
cx15	Sox10m2^C57BL/6J/Sox10m2^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699519
cx16	Sox10m5^C3HeB/FeJ/Sox10m5^C57BL/6J Sox10^Dom/Sox10^Dom	involves: C3HeB/FeJ * C57BL/6J	MGI:3699602
cx17	mwfh^C3HeB/FeJLe/mwfh^C3HeB/FeJLe Sox10^Dom/?	involves: C3HeB/FeJLe * C57BL/6JLe	MGI:3617477
cx18	Sox10^Dom/Sox10⁺ Tg(DBHn-lacZ)8Rpk/0	involves: C3HeB/FeJLe * C57BL/6JLe * SJL	MGI:5897678

Allelic Composition	Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJLe * C57BL/6JLe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

embryo

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5

absent enteric neural crest cell ( J:67383 )

• absence of enteric neural crest cells

pigmentation

abnormal melanocyte differentiation ( J:45117 )

• absence of cells expressing markers of early melanoblasts indicating a defect in melanocyte development at E10.5 and E11.

nervous system

absent enteric neural crest cell ( J:67383 )

• absence of enteric neural crest cells

abnormal sympathetic ganglion morphology ( J:67383 )

• the most anterior sympathetic ganglion is small at E12.5

abnormal superior cervical ganglion morphology ( J:67383 )

• satellite cells are absent in the superior cervical ganglion

abnormal PNS glial cell morphology ( J:67383 )

• B-FABP-positive cells (peripheral glia) are not seen in the dorsal root ganglia or along the spinal nerves at E11.5 or E12.5

• differentiation of peripheral glial cells is arrested at a very early stage

abnormal Schwann cell morphology ( J:67383 )

• peripheral nerves lack Schwann cell nuclei at E12.5 and contain essentially only naked axons that are smaller in diameter than in controls

• Schwann cell precursors along the projections of sensory and motoneurons do not form

motor neuron degeneration ( J:67383 )

• degeneration of motoneurons; number of motoneurons are somewhat reduced on cervical, but not on thoracic or lumbar, axial levels at E15.5 and by E18.5, significant loss of notoneurons is seen on cervical and lumbar axial levels

abnormal sensory neuron morphology ( J:67383 )

• degeneration of sensory and sympathetic neurons

abnormal cranial ganglia morphology ( J:67383 )

• only remnants of cranial ganglia and their projections are seen

abnormal nodose ganglion morphology ( J:67383 )

• satellite cells are absent in the nodose ganglion

abnormal dorsal root ganglion morphology ( J:67383 )

• dorsal root ganglia form broad fusions with the lateral neural tube, which contain, inappropriately, neurons

dorsal root ganglion degeneration ( J:67383 )

• severe degeneration of neurons in dorsal root ganglia that is detectable at E11.5 on lumbar axial levels and affects the majority of neurons at E12.5

• very few cells are seen in the remnants of lumbar dorsal root ganglia at E18.5

small dorsal root ganglion ( J:45117 )

• in embryos

abnormal spinal nerve morphology ( J:67383 )

• marked reduction in size of the intercostal nerve at E12.5

abnormal ventral spinal root morphology ( J:67383 )

• neuronal perikarya are seen in the ventral roots of spinal nerves

cellular

abnormal melanocyte differentiation ( J:45117 )

• absence of cells expressing markers of early melanoblasts indicating a defect in melanocyte development at E10.5 and E11.

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5

Allelic Composition	Sox10^Dom/Sox10^Dom
Genetic Background	involves: C57BL/6JLe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:7688 )

• lethal prior to E13

Allelic Composition	Sox10^Dom/Sox10⁺
Genetic Background	C3Fe.B6JLe-Sox10^Dom

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

nervous system

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

abnormal enteric nervous system morphology ( J:165146 )

• decreased numbers of neuronal progenitor cells in the foregut at E13.5

• Background Sensitivity: increase in the number of myofibroblast-like cells compared to wild-type mice but increase is less than in heterozygous mice on a congenic B6JLe mice

abnormal enteric ganglia morphology ( J:165146 )

• abnormal patterning of the ganglion network in some mice at E13.5

• decreased density of enteric ganglia

• Background Sensitivity: ganglia are sparser in congenic B6 mice compared to congenic C3Fe mice

embryo

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more mixed glial and myofibroblast colonies and fewer mixed neuronal and glial colonies

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

cellular

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more mixed glial and myofibroblast colonies and fewer mixed neuronal and glial colonies

Allelic Composition	Sox10^Dom/Sox10⁺
Genetic Background	C57BL/6J-Sox10^Dom

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

digestive/alimentary system

aganglionic megacolon ( J:165146 )

• mice with severe megacolon display regional increases in myofibroblast-like cells and decreases in glia

nervous system

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

abnormal enteric nervous system morphology ( J:165146 )

• decreased numbers of neuronal progenitor cells in the foregut at E13.5

• Background Sensitivity: increase in the number of myofibroblast-like cells compared to wild-type mice and heterozygous mice on a congenic C3Fe mice

abnormal enteric ganglia morphology ( J:165146 )

• abnormal patterning of the ganglion network in some mice at E13.5

• decreased density of enteric ganglia

• Background Sensitivity: ganglia are sparser in congenic B6 mice compared to congenic C3Fe mice

• large areas are devoid of normal enteric ganglia and instead contain large numbers of myofibroblast-like cells

embryo

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more neuronal and fewer glial, myofibroblast and mixed glial and myofibroblast colonies

abnormal enteric neural crest cell morphology ( J:165146 )

• decrease in the percentage of enteric neural crest-derived progenitors in the fetal gut at E12.5

cellular

abnormal neural crest cell physiology ( J:165146 )

• shift in the types of colonies produced by cultured enteric neural crest-derived progenitors to produce more neuronal and fewer glial, myofibroblast and mixed glial and myofibroblast colonies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 4C		DOID:0110955	OMIM:613266	J:165146

Allelic Composition	Sox10^Dom/Sox10⁺
Genetic Background	involves: C3HeB/FeJLe * C57BL/6JLe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

cellular

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5

nervous system

abnormal enteric neuron morphology ( J:45117 )

• delayed enteric neuron colonization of the entire gut at E11

embryo

abnormal neural crest cell migration ( J:45117 )

• delayed migration at E10.5 and E11.5

Allelic Composition	Sox10^Dom/Sox10⁺
Genetic Background	involves: C57BL/6JLe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:7688 )

• Background Sensitivity: survivability depends on genetic background with few mice surviving to weaning and dying soon thereafter on C57BL/6 and and 70 percent weaned from a B6C3 hybrid background

pigmentation

variable body spotting ( J:7688 )

• on belly and feet

digestive/alimentary system

megacolon ( J:7688 )

• distended colon is evident by 10 days of age

• myenteric ganglion cells of the midportion of the colon are reduced by 90 percent and are virtually absent in the distal one-half of the colon

integument

variable body spotting ( J:7688 )

• on belly and feet

Allelic Composition	Sox10m2^C3HeB/FeJ/Sox10m2^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m2^C3HeB/FeJ mutation (0 available); any Sox10m2 mutation (0 available)
Sox10m2^C57BL/6J mutation (0 available); any Sox10m2 mutation (0 available)

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

digestive/alimentary system

abnormal intestine morphology ( J:117027 )

• increased gut length

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	Sox10m5^C57BL/6J/Sox10m5^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m5^C57BL/6J mutation (0 available); any Sox10m5 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	Sox10m4^C3HeB/FeJ/Sox10m4^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m4^C3HeB/FeJ mutation (0 available); any Sox10m4 mutation (0 available)
Sox10m4^C57BL/6J mutation (0 available); any Sox10m4 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	Sox10m4^C57BL/6J/Sox10m4^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m4^C57BL/6J mutation (0 available); any Sox10m4 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	Sox10m3^C3HeB/FeJ/Sox10m3^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m3^C3HeB/FeJ mutation (0 available); any Sox10m3 mutation (0 available)
Sox10m3^C57BL/6J mutation (0 available); any Sox10m3 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• decreased aganglionosis severity

• decreased aganglionosis penetrance

• decreased affected gut length

Allelic Composition	Sox10m3^C57BL/6J/Sox10m3^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m3^C57BL/6J mutation (0 available); any Sox10m3 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• decreased aganglionosis severity

• decreased aganglionosis penetrance

• decreased affected gut length

Allelic Composition	Gutl1^C3HeB/FeJ/Gutl1^C3HeB/FeJ Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gutl1^C3HeB/FeJ mutation (0 available); any Gutl1 mutation (0 available)
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

digestive/alimentary system

abnormal intestine morphology ( J:117027 )

• increased gut length in females

Allelic Composition	Sox10m2^C3HeB/FeJ/Sox10m2^C3HeB/FeJ Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

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

digestive/alimentary system

abnormal intestine morphology ( J:117027 )

• increased gut length

Allelic Composition	Sox10m2^C57BL/6J/Sox10m2^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m2^C57BL/6J mutation (0 available); any Sox10m2 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	Sox10m5^C3HeB/FeJ/Sox10m5^C57BL/6J Sox10^Dom/Sox10^Dom
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Sox10m5^C3HeB/FeJ mutation (0 available); any Sox10m5 mutation (0 available)
Sox10m5^C57BL/6J mutation (0 available); any Sox10m5 mutation (0 available)

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

digestive/alimentary system

aganglionic megacolon ( J:118320 )

• increased aganglionosis severity

• increased aganglionosis penetrance

• increased affected gut length

Allelic Composition	mwfh^C3HeB/FeJLe/mwfh^C3HeB/FeJLe Sox10^Dom/?
Genetic Background	involves: C3HeB/FeJLe * C57BL/6JLe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
mwfh^C3HeB/FeJLe mutation (0 available); any mwfh mutation (0 available)
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)

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

pigmentation

hypopigmentation ( J:53978 )

• increased incidence of white forelock phenotype

Allelic Composition	Sox10^Dom/Sox10⁺ Tg(DBHn-lacZ)8Rpk/0
Genetic Background	involves: C3HeB/FeJLe * C57BL/6JLe * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox10^Dom mutation (1 available); any Sox10 mutation (33 available)
Tg(DBHn-lacZ)8Rpk mutation (1 available)

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

digestive/alimentary system

abnormal intestine morphology ( J:32868 )

• Background Sensitivity: phenotype is more severe when crossed to C57BL/6J females with all offspring completely lacking ganglion cells in the distal large intestine compared to only 1/3 of offspring from crosses to C3HeB/FeJ females

• Background Sensitivity: in crosses to C3HeB/FeJ females the other 2/3 of offspring have reduced numbers of ganglion or no detectable changes in ganglion numbers

• hypoganglionosis without aganglionosis is confined to the distal 1-2 cm of the adult colon

abnormal colon morphology ( J:32868 )

• hypoganglionosis without aganglionosis is confined to the distal 1-2 cm of the adult colon

abnormal rectum morphology ( J:32868 )

• aganglionosis or hypoganglionosis always involves the distal rectum

integument

white spotting ( J:32868 )

• almost all have one or more white paws

• more than half have ventral white spots

cellular

abnormal vagal neural crest cell migration ( J:32868 )

• delayed colonization of the intestine by vagal neural crest cells between E11.0 to E13.5

• reduced density of neuroblasts in the intestine between E11.0 to E13.5 especially near the migration front

nervous system

abnormal parasympathetic ganglion morphology ( J:32868 )

• almost all display aganglionosis or hypoganglionosis

• Background Sensitivity: in crosses to C3HeB/FeJ females the other 2/3 of offspring have reduced numbers of ganglion or no detectable changes in ganglion numbers

• aganglionic segements of the large intestine lack both myenteric and submucosal ganglion cells

embryo

abnormal vagal neural crest cell migration ( J:32868 )

• reduced density of neuroblasts in the intestine between E11.0 to E13.5 especially near the migration front

• delayed colonization of the intestine by vagal neural crest cells between E11.0 to E13.5

pigmentation

white spotting ( J:32868 )

• almost all have one or more white paws

• more than half have ventral white spots

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