Mouse Genome Informatics
hm
    Edn3tm1Ywa/Edn3tm1Ywa
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice have a mean life span of 21 days, with a range of 4-65 days
• mice have a mean life span of 21 days, with a range of 4-65 days

pigmentation
• 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
• distal portion of colon narrow and spastic; proximal portion of colon distended
• absence of myenteric ganglion neurons in distal, spastic segment of colon

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

integument
• 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
OMIM IDRef(s)
Hirschsprung Disease, Susceptibility to, 4; HSCR4 613712 J:22207
Waardenburg Syndrome, Type 4b; WS4B 613265 J:22207