Phenotypes associated with this allele

• Allele Symbol: Edn3^ls
• Allele Name: lethal spotting
• Allele ID: MGI:1856392
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Edn3^ls/Edn3^ls	involves: C57BL	MGI:3589107
ht2	Edn3^ls/Edn3^+	involves: C57BL	MGI:3589172

Genotype
MGI:3589107

hm1

• 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

Genotype
MGI:3589172

ht2

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

pigmentation

abnormal melanosome morphology ( J:12724 )

• reduced number of melanosomes in leg musculature, the Harderian gland, ankle skin and choroid layer, however melanocyte content in hair follicles and membranous labyrinth of the ear is normal