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Phenotypes Associated with This Genotype
Genotype
MGI:3589107
Allelic
Composition
Edn3ls/Edn3ls
Genetic
Background
involves: C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edn3ls mutation (4 available); any Edn3 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between 2 and 3 weeks of age (J:12724)
• 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)
• 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 (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 (J:12724)

digestive/alimentary system
• distal four sections of the colon are aganglionic (J:5008)
• distal four sections of the colon are aganglionic (J:5008)

nervous system
• impaired expansion and differentiation of epidermal melanoblasts (J:12724)
• impaired expansion and differentiation of epidermal melanoblasts (J:12724)
• deficiency of ganglion cells of the myenteric plexus of the lower colon (J:5008)
• deficiency of ganglion cells of the myenteric plexus of the lower colon (J:5008)

embryogenesis
• impaired expansion and differentiation of epidermal melanoblasts (J:12724)
• impaired expansion and differentiation of epidermal melanoblasts (J:12724)

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory