cellular
• glial differentiation at E15.5 is less prevalent in distal bowel tissues
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• enteric neural crest cells show reduced sensitivity to growth factors/chemoattractants (GDNF and EDN3) present in the intestinal extracellular matrix
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• average migration speed, and therefore travel distance, is almost halved in mutant leader enteric neural crest in ex vivo cultures, while directionality of migration is not affected, indicating a neural crest cell migration defect
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digestive/alimentary system
• intestines show a colonization delay by enteric neural crest cells of vagal origin starting around E11
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• a subset of mice, mainly males, exhibit aganglionic megacolon
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• mice with megacolon exhibit bowel obstruction
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embryo
• enteric neural crest cells show reduced sensitivity to growth factors/chemoattractants (GDNF and EDN3) present in the intestinal extracellular matrix
|
• average migration speed, and therefore travel distance, is almost halved in mutant leader enteric neural crest in ex vivo cultures, while directionality of migration is not affected, indicating a neural crest cell migration defect
|
growth/size/body
• mice with aganglionic megacolon are smaller, reaching about 74% of littermate weight
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integument
• variegated pigmentation
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nervous system
• mice with megacolon lack myenteric ganglia in the distal colon
• colonic aganglionosis is seen in both megacolon affected mice and non-affected mice of both sexes
• most mice exhibit aganglionosis in the distal colon, with males (90%) more affected than females (74%)
• glial differentiation at E15.5 is less prevalent in distal bowel tissues
|
pigmentation
• variegated pigmentation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Hirschsprung's disease | DOID:10487 |
OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 |
J:224231 |