Phenotypes Associated with This Genotype

Genotype
MGI:5755288

• Allelic Composition: Tg(SRY-YFP,Tyr)TashTNpln/Tg(SRY-YFP,Tyr)TashTNpln
• Genetic Background: involves: FVB/N

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

cellular

abnormal cell differentiation ( J:224231 )

• glial differentiation at E15.5 is less prevalent in distal bowel tissues

abnormal neural crest cell physiology ( J:224231 )

• enteric neural crest cells show reduced sensitivity to growth factors/chemoattractants (GDNF and EDN3) present in the intestinal extracellular matrix

abnormal enteric neural crest cell migration ( J:224231 )

• 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

digestive/alimentary system

abnormal intestine development ( J:224231 )

• intestines show a colonization delay by enteric neural crest cells of vagal origin starting around E11

aganglionic megacolon ( J:224231 )

♂ • a subset of mice, mainly males, exhibit aganglionic megacolon

intestinal obstruction ( J:224231 )

♂ • mice with megacolon exhibit bowel obstruction

embryo

abnormal neural crest cell physiology ( J:224231 )

• enteric neural crest cells show reduced sensitivity to growth factors/chemoattractants (GDNF and EDN3) present in the intestinal extracellular matrix

abnormal enteric neural crest cell migration ( J:224231 )

• 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

decreased body size ( J:224231 )

♂ • mice with aganglionic megacolon are smaller, reaching about 74% of littermate weight

integument

variegated coat color ( J:224231 )

• variegated pigmentation

nervous system

abnormal enteric ganglia morphology ( J:224231 )

• 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 coat color ( J:224231 )

• 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