Mouse Genome Informatics
hm
    Edn3ls/Edn3ls
involves: C57BL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die between 2 and 3 weeks of age (J:12724)

pigmentation
• variable white spotting on the back and the belly is usually all white (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
• distal four sections of the colon are aganglionic (J:5008)

nervous system
• impaired expansion and differentiation of epidermal melanoblasts
• deficiency of ganglion cells of the myenteric plexus of the lower colon

embryogenesis
• impaired expansion and differentiation of epidermal melanoblasts

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

Mouse Models of Human Disease
OMIM IDRef(s)
Hirschsprung Disease, Susceptibility to, 4; HSCR4 613712 J:5008