Phenotypes Associated with This Genotype

Genotype
MGI:3589107

• Allelic Composition: Edn3^ls/Edn3^ls
• Genetic Background: involves: C57BL

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

mortality/aging

postnatal lethality, complete penetrance ( J:5008 , J:12724 )

• die between 2 and 3 weeks of age (J:12724)

pigmentation

variable body spotting ( J:5008 , J:12724 )

• variable white spotting on the back and the belly is usually all white (J:12724)

abnormal melanosome morphology ( J:12724 )

• melanosomes are absent in hair, Harderian gland, choroid, leg muscles, and ankle skin and are reduced in the membranous labyrinth of the ear

digestive/alimentary system

megacolon ( J:5008 , J:12724 )

• distal four sections of the colon are aganglionic (J:5008)

nervous system

abnormal melanoblast morphology ( J:12724 )

• impaired expansion and differentiation of epidermal melanoblasts

abnormal enteric ganglia morphology ( J:5008 )

• deficiency of ganglion cells of the myenteric plexus of the lower colon

embryo

abnormal melanoblast morphology ( J:12724 )

• impaired expansion and differentiation of epidermal melanoblasts

integument

variable body spotting ( J:5008 , J:12724 )

• variable white spotting on the back and the belly is usually all white (J:12724)

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:5008