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Phenotypes Associated with This Genotype
Genotype
MGI:3589108
Allelic
Composition
Ednrbs-l/Ednrbs-l
Genetic
Background
involves: C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbs-l mutation (2 available); any Ednrb mutation (72 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some live to breed but die between 3 and 15 months of age
• most usually die by 15 days of age but occasionally a mutant mouse may live to sexual maturity and breed

pigmentation
• mice are white-coated with small patches of pigmented hair about the eyes,ears and tail

digestive/alimentary system
• enteric ganglion cell migration is slower and does not keep up with elongation of the gut, subsequently leaving the end of the gut without innervation
• distal four sections of the colon are aganglionic
• grossly evident via markedly distended colon in weaning age or older mice

nervous system
• randomly connected patches of normal and abnormal hair cells are seen in histological preparations
• deficiency of ganglion cells in the myenteric plexus of the lower colon
• complete lack of ganglion cells in the distal gut leads to megacolon

integument

hearing/vestibular/ear
• randomly connected patches of normal and abnormal hair cells are seen in histological preparations
• abnormally formed with nuclei at different levels
• there is extreme variability in thickness
• rare instances of cellular degeneration can be seen

Mouse Models of Human Disease
OMIM ID Ref(s)
Hirschsprung Disease, Susceptibility to, 2; HSCR2 600155 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
05/24/2016
MGI 6.04
The Jackson Laboratory