Phenotypes Associated with This Genotype

Genotype
MGI:5774474

• Allelic Composition: Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
• Genetic Background: involves: FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:229828 )

• mice do not survive beyond weaning

nervous system

abnormal enteric nervous system morphology ( J:229828 )

• decreased enteric nerve system density in the mid-colon

• female and male mice are equally affected

abnormal enteric ganglia morphology ( J:229828 )

• lack of myenteric ganglia in the distal colon despite large extrinsic nerve fibers and isolated neurons

• however, ganglia are detected in the proximal colon

growth/size/body

postnatal growth retardation ( J:229828 )

distended abdomen ( J:229828 )

pigmentation

abnormal coat/hair pigmentation ( J:229828 )

• mice have a single pigmented patch on their back with otherwise white fur

behavior/neurological

hunched posture ( J:229828 )

digestive/alimentary system

aganglionic megacolon ( J:229828 )

• dilatation of the proximal and mid-colon without myenteric ganglia in the distal colon

• however, ganglia are detected in the proximal colon

cellular

abnormal enteric neural crest cell migration ( J:229828 )

• delayed gut colonization by enteric neural crest cells

embryo

abnormal enteric neural crest cell migration ( J:229828 )

• delayed gut colonization by enteric neural crest cells

integument

abnormal coat/hair pigmentation ( J:229828 )

• mice have a single pigmented patch on their back with otherwise white fur

ruffled hair ( J:229828 )

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:229828