Phenotypes Associated with This Genotype

Genotype
MGI:2174947

• Allelic Composition: Edn3^tm1Ywa/Edn3^tm1Ywa
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:22207 )

• mice have a mean life span of 21 days, with a range of 4-65 days

postnatal lethality, incomplete penetrance ( J:22207 )

• mice have a mean life span of 21 days, with a range of 4-65 days

pigmentation

variable body spotting ( J:22207 )

• extensive white spotting (70 - 80% of body surface)

• white regions showed absence of melanin pigment in coat hair and of melanocytes in the hair bulbs

digestive/alimentary system

abnormal colon morphology ( J:22207 )

• distal portion of colon narrow and spastic; proximal portion of colon distended

aganglionic megacolon ( J:22207 )

• absence of myenteric ganglion neurons in distal, spastic segment of colon

nervous system

absent enteric neurons ( J:22207 )

• absence of myenteric ganglion neurons in distal, spastic segment of colon

integument

variable body spotting ( J:22207 )

• extensive white spotting (70 - 80% of body surface)

• white regions showed absence of melanin pigment in coat hair and of melanocytes in the hair bulbs

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:22207
Waardenburg syndrome type 4B		DOID:0110954	OMIM:613265	J:22207